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319L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Appendix A. Overview of Metabolic Disorders
320
Am
ino
acid
dis
orde
rs
Dis
orde
rE
nzym
e af
fect
edB
ioch
emic
al fi
ndin
gsC
linic
al f
eatu
res
Nut
ritio
nal m
odifi
catio
nV
itam
in th
erap
y
Phen
ylke
tonu
ria:
se
vere
(cl
assi
cal)
, m
oder
ate
(aty
pica
l),
mild
(h
yper
phen
yl
alan
inem
ia)
Phen
ylal
anin
e hy
drox
ylas
eIn
crea
sed
bloo
d ph
enyl
alan
ine
If u
ntre
ated
, int
elle
ctua
l dis
abili
ty,
seiz
ures
, hyp
erac
tivity
, and
ecz
ema;
no
rmal
dev
elop
men
t with
pro
per
trea
tmen
t
Phen
ylal
anin
e re
stri
ctio
n,
±ty
rosi
ne s
uppl
emen
tatio
nN
one
Seve
re: >
1,20
0 um
ol/L
Mod
erat
e: 3
60–1
,200
μm
ol/L
Mild
: 120
–360
um
ol/L
Mat
erna
l ph
enyl
keto
nuri
aPh
enyl
alan
ine
hydr
oxyl
ase
Sam
e as
abo
veU
ntre
ated
PK
U in
the
mot
her
caus
es
inte
llect
ual d
isab
ility
, con
geni
tal h
eart
di
seas
e, lo
w b
irth
wei
ght,
and
mic
roce
phal
y in
off
spri
ng
Phen
ylal
anin
e re
stri
ctio
n,
±ty
rosi
ne s
uppl
emen
tatio
nN
one
Hyp
erph
enyl
al
anin
emia
(pt
erin
de
fect
)
Dih
ydro
pter
idin
e re
duct
ase;
GT
P cy
cloh
ydro
lase
Mild
to m
oder
ate
hype
rphe
nyla
lani
nem
ia (
see
abov
e)
Psyc
hom
otor
ret
arda
tion,
toni
city
di
sord
ers,
hyp
erth
erm
ia,
hype
rsal
ivat
ion,
dif
ficul
ty s
wal
low
ing
±ph
enyl
alan
ine
rest
rict
ion,
±
tyro
sine
sup
plem
enta
tion
Tetr
ahyd
ropt
erin
2
mg/
kg/d
ay o
rally
, ±
neu
rotr
ansm
itter
su
pple
men
tsTy
rosi
nem
ia ty
pe I
Fum
aryl
acet
oace
tate
hy
drol
ase
Incr
ease
d bl
ood
phen
ylal
anin
e an
d ty
rosi
ne;
incr
ease
d al
pha
feto
prot
ein;
ur
inar
y su
ccin
ylac
eton
e
Liv
er f
ailu
re; r
enal
tubu
lar
acid
osis
, fa
ilure
to th
rive
, vom
iting
, dia
rrhe
a,
rick
ets,
por
phyr
ial
ike
cris
es, h
epat
ic
carc
inom
a
Phen
ylal
anin
e an
d ty
rosi
ne
rest
rict
ion
(die
t use
d in
co
njun
ctio
n w
ith N
TB
C o
r un
til li
ver
tran
spla
ntat
ion
is
poss
ible
)
Non
e
Tyro
sine
mia
type
II
Tyro
sine
am
inot
rans
fera
seIn
crea
sed
bloo
d ph
enyl
alan
ine
and
tyro
sine
Inte
llect
ual d
isab
ility
, pho
toph
obia
, pa
lmar
ker
atos
isPh
enyl
alan
ine
and
tyro
sine
re
stri
ctio
nN
one
Hom
ocys
tinur
ia
(pyr
idox
ine
nonr
espo
nsiv
e)
Cys
tath
ioni
ne ß
syn
thas
eH
omoc
ystin
e in
blo
od a
nd
urin
e, in
crea
sed
met
hion
ine
and
decr
ease
d cy
stin
e in
bl
ood
Dis
loca
ted
lens
es, m
arfa
noid
lik
e sk
elet
al c
hang
es, i
ntra
vasc
ular
th
rom
bose
s, in
telle
ctua
l dis
abili
ty,
oste
open
ia
Met
hion
ine
rest
rict
ion;
cy
stin
e, b
etai
ne, a
nd f
olat
e su
pple
men
tatio
n
Bet
aine
100
mg/
kg/
day
oral
ly
Hom
ocys
tinur
ia
(pyr
idox
ine
resp
onsi
ve)
Cys
tath
ioni
ne ß
syn
thas
eSa
me
as a
bove
Sam
e as
abo
veN
one
Pyri
doxi
ne
25–5
00 m
g/da
y or
ally
Map
le s
yrup
uri
ne
dise
ase
Bra
nche
dch
ain
keto
ac
id d
ehyd
roge
nase
co
mpl
ex
Ele
vate
d bl
ood,
uri
ne, a
nd
CSF
leuc
ine,
isol
euci
ne,
valin
e, a
llois
oleu
cine
Neo
nata
l for
m: p
oor
feed
ing,
flu
ctua
ting
tone
, apn
ea, s
eizu
res,
dea
th,
deve
lopm
enta
l del
ay; v
aria
nt f
orm
s:
mild
er k
etoa
cido
sis
trig
gere
d by
pr
otei
n lo
ad o
r ill
ness
Val
ine,
isol
euci
ne, a
nd
leuc
ine
rest
rict
ion
Onl
y in
var
iant
fo
rms
whe
re
100–
300
mg/
day
oral
thia
min
may
en
hanc
e re
sidu
al
enzy
me
activ
ity
Appendix A. Overview of Metabolic Disorders
321
Am
ino
acid
dis
orde
rs
Dis
orde
rE
nzym
e af
fect
edB
ioch
emic
al fi
ndin
gsC
linic
al f
eatu
res
Nut
ritio
nal m
odifi
catio
nV
itam
in th
erap
y
Org
anic
aci
dem
ias
Glu
tari
c ac
idem
ia
type
IG
luta
ryl
CoA
de
hydr
ogen
ase
Ele
vate
d bl
ood,
uri
ne, a
nd
CSF
glu
tari
c ac
id a
nd
3O
Hg
luta
ric
acid
, met
abol
ic
acid
osis
Acu
te m
etab
olic
cri
sis
(vom
iting
, ac
idos
is)
and
neur
olog
ical
de
teri
orat
ion
trig
gere
d by
illn
ess;
m
acro
ceph
aly,
ata
xia,
cho
reoa
thet
osis
, de
velo
pmen
tal d
elay
Lysi
ne a
nd tr
ypto
phan
re
stri
ctio
n; c
arni
tine
supp
lem
enta
tion
May
hav
e pa
rtia
l re
spon
se to
ri
bofla
vin
100–
300
mg/
day
oral
ly
Glu
tari
c ac
idem
ia
type
II
Mul
tiple
acy
lC
oA
dehy
drog
enas
eE
leva
ted
bloo
d, u
rine
, and
C
SF g
luta
ric
acid
and
2
OH
glu
tari
c ac
id, m
etab
olic
ac
idos
is, h
yper
amm
onem
ia,
hypo
glyc
emia
(±
ket
ones
),
impa
ired
fat
ty a
cid
oxid
atio
n
Mal
form
atio
ns in
mos
t sev
ere
form
, hy
poto
nia,
hep
atom
egal
y,
deve
lopm
enta
l del
ay
Mild
pro
tein
and
fat
re
stri
ctio
n; f
astin
g av
oida
nce,
±
car
nitin
e su
pple
men
tatio
n
±R
ibofl
avin
10
0–30
0 m
g/d
oral
ly
Isov
aler
ic a
cide
mia
Isov
aler
ylC
oA
dehy
drog
enas
eE
leva
ted
bloo
d, u
rine
, and
C
SF is
oval
eric
aci
d;
met
abol
ic a
cido
sis,
hy
pera
mm
onem
ia,
hypo
glyc
emia
Poor
fee
ding
, vom
iting
, sw
eaty
fee
t bo
dy o
dor,
seiz
ures
, com
a, d
eath
if
untr
eate
d
Leu
cine
res
tric
tion;
gly
cine
an
d ca
rniti
ne
supp
lem
enta
tion
Non
e
Met
hylm
alon
ic
acid
emia
Met
hylm
alon
ylC
oA
mut
ase
Met
abol
ic a
cido
sis,
ket
onur
ia,
hypo
glyc
emia
, hy
pera
mm
onem
ia,
hype
rgly
cine
mia
Let
harg
y, f
ailu
re to
thri
ve, v
omiti
ng,
hepa
tom
egal
y, h
ypot
onia
, com
a, d
eath
if
unt
reat
ed
Isol
euci
ne, m
ethi
onin
e,
valin
e, a
nd th
reon
ine
rest
rict
ion;
car
nitin
e su
pple
men
tatio
n
Non
e
Met
hylm
alon
ic
acid
emia
Cob
alam
in p
roce
ssin
g de
fect
(h
ydro
xoco
bala
min
or
aden
osyl
coba
lam
in)
Met
abol
ic a
cido
sis,
ket
onur
ia,
± h
omoc
ystin
e in
uri
ne a
nd
bloo
d, ±
fol
ate
defic
ienc
y
Let
harg
y, f
ailu
re to
thri
ve, v
omiti
ng,
hepa
tom
egal
y, h
ypot
onia
, com
a, d
eath
if
unt
reat
ed
Car
nitin
e su
pple
men
tatio
n,
DR
I fo
r pr
otei
nH
ydro
xoco
bala
min
1–
2 m
g da
ily to
w
eekl
y in
tram
uscu
larl
yPr
opio
nic
acid
emia
Prop
iony
lC
oA
carb
oxyl
ase
Met
abol
ic a
cido
sis,
ket
onur
ia,
hype
rgly
cine
mia
, hy
pogl
ycem
ia,
hype
ram
mon
emia
Poor
fee
ding
, vom
iting
, let
harg
y,
hypo
toni
a, s
eizu
res,
com
a, d
eath
if
untr
eate
d, d
evel
opm
enta
l del
ay
Isol
euci
ne, m
ethi
onin
e,
valin
e, a
nd th
reon
ine
rest
rict
ion;
car
nitin
e su
pple
men
tatio
n
Non
e
Ure
a cy
cle
diso
rder
s
Na
cety
lglu
tam
ate
synt
hase
(N
AG
S)
defic
ienc
y
Na
cety
lglu
tam
ate
synt
hase
Hyp
eram
mon
emia
Let
harg
y, v
omiti
ng, a
pnea
, com
a an
d de
ath
if u
ntre
ated
; int
elle
ctua
l di
sabi
lity
Prot
ein
rest
rict
ion;
ess
entia
l am
ino
acid
and
arg
inin
e su
pple
men
tatio
n (i
n co
njun
ctio
n w
ith
carb
amyl
glut
amat
e)
Non
e
(con
tinue
d)
Appendix A. Overview of Metabolic Disorders
322
Am
ino
acid
dis
orde
rs
Dis
orde
rE
nzym
e af
fect
edB
ioch
emic
al fi
ndin
gsC
linic
al f
eatu
res
Nut
ritio
nal m
odifi
catio
nV
itam
in th
erap
y
Orn
ithin
e tr
ansc
arba
myl
ase
(OT
C)
defic
ienc
y;
inte
llect
ual
disa
bilit
y
Orn
ithin
e tr
ansc
arba
myl
ase
Hyp
eram
mon
emia
, re
spir
ator
y al
kalo
sis
Let
harg
y, v
omiti
ng, a
pnea
, com
a an
d de
ath
if u
ntre
ated
; int
elle
ctua
l di
sabi
lity
Prot
ein
rest
rict
ion;
ess
entia
l am
ino
acid
and
arg
inin
e su
pple
men
tatio
n (i
n co
njun
ctio
n w
ith n
itrog
en
scav
engi
ng m
edic
atio
ns)
Non
e
Car
bam
oyl
phos
phat
e sy
nthe
tase
(C
PS)
defic
ienc
y
Car
bam
oyl p
hosp
hate
sy
nthe
tase
Hyp
eram
mon
emia
, re
spir
ator
y al
kalo
sis
Let
harg
y, v
omiti
ng, a
pnea
, com
a an
d de
ath
if u
ntre
ated
; int
elle
ctua
l di
sabi
lity
Prot
ein
rest
rict
ion;
ess
entia
l am
ino
acid
and
arg
inin
e su
pple
men
tatio
n (i
n co
njun
ctio
n w
ith n
itrog
en
scav
engi
ng m
edic
atio
ns)
Non
e
Citr
ullin
emia
Arg
inin
osuc
cini
c sy
nthe
tase
Hyp
eram
mon
emia
, re
spir
ator
y al
kalo
sis
Let
harg
y, v
omiti
ng, a
pnea
, com
a an
d de
ath
if u
ntre
ated
; int
elle
ctua
l di
sabi
lity
Prot
ein
rest
rict
ion;
ess
entia
l am
ino
acid
and
arg
inin
e su
pple
men
tatio
n (i
n co
njun
ctio
n w
ith n
itrog
en
scav
engi
ng m
edic
atio
ns)
Non
e
Arg
inin
osuc
cini
c ac
idur
iaA
rgin
inos
ucci
nic
lyas
eH
yper
amm
onem
ia,
resp
irat
ory
alka
losi
sL
etha
rgy,
vom
iting
, apn
ea, c
oma
and
deat
h if
unt
reat
ed; c
irrh
osis
, in
telle
ctua
l dis
abili
ty
Prot
ein
rest
rict
ion;
ess
entia
l am
ino
acid
and
arg
inin
e su
pple
men
tatio
n (i
n co
njun
ctio
n w
ith n
itrog
en
scav
engi
ng m
edic
atio
ns)
Non
e
Arg
inem
iaA
rgin
ase
±H
yper
amm
onem
iaSp
astic
dip
legi
a an
d de
ath
if u
ntre
ated
, in
telle
ctua
l dis
abili
tyR
estr
ict p
rote
in; e
ssen
tial
amin
o ac
id s
uppl
emen
tatio
n (i
n co
njun
ctio
n w
ith n
itrog
en
scav
engi
ng m
edic
atio
ns)
Non
e
Hyp
eror
nith
inem
ia
hype
ram
mon
emia
ho
moc
itrul
linur
ia
(HH
H s
yndr
ome)
Def
ect i
n m
itoch
ondr
ial
tran
spor
t of
orni
thin
eH
yper
orni
thin
emia
, hy
pera
mm
onem
ia,
hom
ocitr
ullin
uria
, hy
perg
luta
min
emia
, hy
pera
lani
nem
ia
Ata
xia,
leth
argy
, vom
iting
, ch
oreo
athe
tosi
s, s
eizu
res,
com
a,
deve
lopm
enta
l del
ay
Prot
ein
rest
rict
ion;
arg
inin
e su
pple
men
tatio
nN
one
Dis
orde
rs o
f car
bohy
drat
e m
etab
olis
m
Gal
acto
sem
iaH
epat
ic a
nd e
ryth
rocy
te
epim
eras
eG
alac
tose
in b
lood
and
uri
neH
epat
omeg
aly,
jaun
dice
, vom
iting
Res
tric
t gal
acto
se; c
alci
um
and
vita
min
D
supp
lem
enta
tion
Non
e
Gal
acto
sem
iaG
alac
toki
nase
Gal
acto
se in
blo
od a
nd u
rine
Cat
arac
tsR
estr
ict g
alac
tose
; cal
cium
an
d vi
tam
in D
su
pple
men
tatio
n
Non
e
Appendix A. Overview of Metabolic Disorders
323
Am
ino
acid
dis
orde
rs
Dis
orde
rE
nzym
e af
fect
edB
ioch
emic
al fi
ndin
gsC
linic
al f
eatu
res
Nut
ritio
nal m
odifi
catio
nV
itam
in th
erap
y
Gal
acto
sem
iaG
alac
tose
1p
hosp
hate
ur
idyl
tran
sfer
ase
Gal
acto
se in
blo
od a
nd u
rine
; re
nal F
anco
ni s
yndr
ome
Cat
arac
ts, d
iarr
hea,
fai
lure
to th
rive
, he
pato
meg
aly,
jaun
dice
, vom
iting
, E
. col
i sep
sis
Res
tric
t gal
acto
se; c
alci
um
and
vita
min
D
supp
lem
enta
tion
Non
e
Pyru
vate
de
hydr
ogen
ase
com
plex
defi
cien
cy
Pyru
vate
deh
ydro
gena
seE
leva
ted
bloo
d py
ruva
te a
nd
lact
ate,
ele
vate
d bl
ood
alan
ine
Hyp
oton
ia, f
ailu
re to
thri
ve, s
eizu
res,
±
dysm
orph
ism
, dev
elop
men
tal d
elay
Res
tric
t car
bohy
drat
e,
prov
ide
high
fat
die
t (50
%
of e
nerg
y) o
r ke
toge
nic
diet
Thi
amin
50
–100
mg/
day
oral
lyH
ered
itary
fru
ctos
e in
tole
ranc
eA
ldol
ase
BD
ecre
ased
blo
od g
luco
se,
phos
phat
e, in
crea
sed
fruc
tose
in
uri
ne a
nd b
lood
Nau
sea,
dia
rrhe
a, v
omiti
ng,
hypo
glyc
emia
aft
er f
ruct
ose
inge
stio
n;
if u
ntre
ated
: fai
lure
to th
rive
, liv
er a
nd
kidn
ey d
isea
se, s
eizu
res,
dea
th
Res
tric
t fru
ctos
e, s
ucro
se,
and
sorb
itol
Non
e
Fatt
y ac
id o
xida
tion
dis
orde
rs
VL
CA
D d
efici
ency
Ver
y lo
ngc
hain
ac
ylC
oA
dehy
drog
enas
e;
long
cha
in h
ydro
xyac
yl
CoA
deh
ydro
gena
se
Hyp
oket
otic
hyp
ogly
cem
ia,
±hy
pera
mm
onem
iaC
ardi
omyo
path
y, f
ailu
re to
thri
ve,
hypo
toni
a, h
epat
omeg
aly,
leth
argy
, co
ma
Fast
ing
avoi
danc
e; ±
lo
ngc
hain
fat
res
tric
tion
(10–
25 %
of
ener
gy);
MC
T
oil,
±ca
rniti
ne, a
nd ±
es
sent
ial f
atty
aci
d su
pple
men
tatio
n
Non
eL
CH
AD
defi
cien
cy
MC
AD
defi
cien
cyM
ediu
mc
hain
acy
lC
oA
dehy
drog
enas
eH
ypok
etot
ic h
ypog
lyce
mia
, m
ild h
yper
amm
onem
ia a
nd
met
abol
ic a
cido
sis
Met
abol
ic d
ecom
pens
atio
n w
ith f
astin
g (l
etha
rgy,
vom
iting
, com
a) a
nd
hepa
tom
egal
y
Fast
ing
and
MC
T a
void
ance
; fa
t 30
% o
f en
ergy
; ±
carn
itine
Non
e
SCA
D d
efici
ency
Shor
tch
ain
acyl
CoA
de
hydr
ogen
ase;
sh
ort
chai
n hy
drox
yacy
lC
oA d
ehyd
roge
nase
Hyp
oket
otic
hyp
ogly
cem
ia,
±hy
pera
mm
onem
ia,
met
abol
ic a
cido
sis
Poor
fee
ding
, vom
iting
, fai
lure
to
thri
ve; ±
deve
lopm
enta
l del
ayFa
stin
g av
oida
nce;
±ca
rniti
neN
one
SCH
AD
defi
cien
cy
Ada
pted
fro
m H
endr
icks
KM
, Dug
gan
C, W
alke
r W
A. M
anua
l of
Pedi
atri
c N
utri
tion,
3rd
edi
tion.
200
0, H
amilt
on, O
ntar
io; B
.C. D
ecke
r, In
c. H
amilt
on, O
ntar
io.
Appendix A. Overview of Metabolic Disorders
325L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
B.1 Website to Accompany the Book
Nutrition Management of Inherited Metabolic Disorders: Lessons from Metabolic University: http://www.imdnutritionmanagement.com (online diet calculations)
B.2 Educational Websites for Dietitians
Educational tools developed by the Inherited Metabolic Disease Clinic at Colorado Children’s Hospital, Aurora, CO: http://www.ucdenver.edu/academics/colleges/medicalschool/departments/pediatrics/subs/genetics/clinical/IMDNutrition/Pages/IMDNutritionHome.aspxNew England Consortium of Metabolic Programs,
Boston Children’s Hospital, Boston, MA: http://newenglandconsortium.org
Genetic Metabolic Dietitians International: www.gmdi.org
Metabolic Genetics and Nutrition Program, Emory University, Atlanta GA: http://genetics.emory.edu/clinical/index.php?assetID=261
Cristine M. Trahms Program for Phenylketonuria, University of Washington, Seattle WA: http://depts.washington.edu/pku/
B.3 Parent/Support Groups Sites with Educational Materials
National PKU Alliance: http://www.npkua.org/Education.aspx
Canadian PKU and Allied Disorders: http://www.canpku.org/canpkuresources
B.4 Industry Websites with Educational Materials
Nutrica Learning Center: http://www.nutricialearningcenter.com
Vitaflo: http://www.vitaflousa.com/resources/PKU Academy: www.pkuacademy.orgMead Johnson Nutrition: http://www.meadjohn
son.com/pediatrics/usen/clinicalsupport/metabolictoolkit
Appendix B. Websites containing Educational Resources for Dietitians Managing Inherited Metabolic Diseases
327L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
c.1 carbohydrate
Carbohydrate is provided as IV dextrose.Dextrose contains 3.4 kcal/g.Dextrose solutions range from 5 % (D5W) to 25 % (D25W) by weight.Solutions containing 12.5 % dextrose and higher cannot be given peripherally and require a central
line (peripherally inserted central catheter or PICC, port or central access).
Percent solution CHO content (g/100 mL) kcal/100 mL
D5W (5 %) 5 17D10W (10 %) 10 34D25W (25 %) 25 85
c.2 Protein
Protein is provided as crystalline amino acid solutions.TrophAmine 6 % and 10 % (B. Braun) and AminosynPF 7 % (Hospira) are frequently used
solutions.Amino acid solutions provide 4 kcal/g.
Percent solution (%) Amino acid content (g/100 mL) kcal/100 mL
3.0 3 123.5 3.5 145.0 5 2010 10 40
c.3 Fat
Fat is provided as a lipid emulsion.Intralipid 10 % and Intralipid 20 % are frequently used lipid emulsions.
Percent solution of fat emulsion kcal/100 mL
10 % 1.1 kcal/mL20 % 2.0 kcal/mL
Appendix c. Nutrient composition of Frequently Used Parenteral Fluids
329L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Appendix D. Studies Describing Protein and Energy Intakes
330
Aut
hor
and
year
Con
ditio
nR
epor
ting
coun
try
Prot
ein
inta
keE
nerg
y in
take
Oth
er
Aco
sta
(199
4)
[1]
PKU
N =
25
from
dia
gnos
isPe
riod
1 =
0–3
mon
ths
of a
gePe
riod
2 =
3–6
mon
ths
of a
ge
USA
Fed
prot
ein
subs
titut
eG
roup
A 3
.12
g/10
0 kc
alG
roup
B 2
.74
g/10
0 kc
al
Gro
up A
Peri
od 1
,580
± 2
8 kc
al a
nd
peri
od 2
,680
± 3
0 kc
al/k
gG
roup
BPe
riod
1,5
91 ±
30
kcal
and
pe
riod
2,7
09 ±
34
kcal
/kg
Pros
pect
ive
long
itudi
nal s
tudy
Gro
up A
infa
nts
tole
rate
d in
crea
se
Phe
Gro
up A
impr
oved
gro
wth
vs.
G
roup
B
Schä
efer
(19
94)
[2]
PKU
N =
82
(0–6
yea
rs)
Ger
man
yN
atur
al/to
tal p
rote
in g
/kg/
day
<2
year
s ~0
.7 ±
0.1
/2.2
± 0
.25
3–6
year
s ~0
.5 ±
0.1
/2 ±
0.2
5 g/
kg/d
ay
–R
etro
spec
tive
revi
ew. S
ome
grow
th r
etar
datio
n in
firs
t 2 y
ears
Tho
mas
(19
94)
[3]
PA N =
12
Dx
(3–7
90 d
ays)
Saud
i Ara
bia
Initi
al c
onsu
lt 1.
0–3
g/kg
Fina
l con
sult
1.6–
3 g/
kg11
5–14
5 kc
al/k
g99
–273
kca
l/kg
Ret
rosp
ectiv
e re
view
. Pro
tein
re
com
men
datio
ns in
clud
e am
ino
acid
sup
plem
ents
. Int
akes
pr
escr
ibed
bas
ed o
n R
oss
nutr
ition
su
ppor
t pro
toco
lSc
hulz
(19
95)
[4]
PKU
N =
99
(12–
29 y
ears
)G
roup
s ±
pro
tein
su
pple
men
t
Ger
man
yG
roup
with
pro
tein
sup
plem
ent:
112–
138
%
RD
AG
roup
with
out p
rote
in s
uppl
emen
t: 90
–104
% R
DA
Prot
ein:
8–2
0 %
ene
rgy
Fat:
11–4
0 %
CH
O: 3
6–80
%Pr
otei
n: 5
–16
%Fa
t: 26
–47
%C
HO
: 43–
66 %
Ret
rosp
ectiv
e re
view
. Die
tary
su
rvey
. Gro
up w
ithou
t pro
tein
su
pple
men
t had
inad
equa
te in
take
of
som
e nu
trie
nts
and
high
er P
he
leve
ls
Mac
Don
ald
(199
6) [
5]PK
UN
= 1
9 (1
–16
year
s)U
KA
lloca
ted
prot
ein
g/kg
/day
<1
year
: 32–
5 ye
ars:
2.5
6–10
yea
rs: 2
.0>
11 y
ears
: 1.5
Mea
n (S
D, r
ange
)10
5 %
(17
%,
77 %
–178
%)
EA
R
Pros
pect
ive
long
itudi
nal s
tudy
No
corr
elat
ion
with
ene
rgy
inta
ke
and
plas
ma
Phe
leve
lD
istr
ibut
ion
of p
rote
in s
ubst
itute
af
fect
s 24
h P
he v
aria
bilit
yK
rauc
h (1
996)
[6
]PK
UL
ow
and
high
to
lera
nce
grou
ps a
t va
riou
s ag
es
Ger
man
yR
ecom
men
ded
prot
ein
inta
ke:
3 m
onth
s: 2
.2 g
/kg
10 m
onth
s: 2
.0 g
/kg
3 ye
ars:
1.7
g/k
g8
year
s: 1
.4 g
/kg
12 y
ears
: 1.1
g/k
g16
yea
rs: 0
.9 g
/kg
“Ave
rage
ene
rgy
inta
ke”
Exc
ess
of s
ever
al a
min
o ac
id f
or
som
e pa
tient
s w
hen
fed
prot
ein
at
thes
e le
vels
Aco
sta
(199
8)
[7]
PKU
N =
35
(0.5
–6 m
onth
s)U
SAM
ean
17.3
± 0
.6 g
660
± 1
8 kc
alPr
ospe
ctiv
e lo
ngitu
dina
l stu
dyN
orm
al g
row
th s
een,
sup
port
ing
MR
C r
ecom
men
datio
ns f
or
supp
lem
enta
ry p
rote
in o
f 3
g/kg
/da
y
Appendix D. Studies Describing Protein and Energy Intakes
331
Aut
hor
and
year
Con
ditio
nR
epor
ting
coun
try
Prot
ein
inta
keE
nerg
y in
take
Oth
er
Tho
mas
(2
000)
[8]
Org
anic
aci
dem
iaN
= 6
USA
All
child
ren
cons
umed
en
ergy
<R
DA
for
age
Ret
rosp
ectiv
e re
view
. Ade
quat
e gr
owth
see
n at
<R
DA
ene
rgy.
M
ay b
e re
late
d to
dec
reas
ed
mob
ility
Arn
old
(200
2)
[9]
PKU
N =
28
(2–1
8 ye
ars)
USA
Tota
l pro
tein
g/d
ay >
RD
A:
2–4
year
s: 3
04–
7 ye
ars:
35
g7–
11 y
ear:
40
>12
yea
rs: 5
0–55
–R
etro
spec
tive
char
t rev
iew
.N
o ge
nera
l gro
wth
impa
irm
ent.
Hyp
opre
albu
min
emia
pre
dict
ed
linea
r gr
owth
res
tric
tion
Yan
nice
lli
(200
3) [
10]
MM
A/P
AN
= 1
6 (0
.03–
3 ye
ars)
USA
Tota
l pro
tein
g: m
ean
± S
D:
<6
mon
ths:
15
± 0
.96
to <
12 m
onth
s: 1
8.3
± 1
.11
to <
4 ye
ars:
25.
1 ±
2.4
6
Ene
rgy
kcal
mea
n ±
SD
:<
6 m
onth
s: 6
45 ±
10
6 to
<12
mon
ths:
741
± 9
21
to <
4 ye
ars:
1,0
62 ±
100
Mul
ticen
ter
outp
atie
nt s
tudy
. T
hose
incr
easi
ng in
leng
th
achi
eved
98
% a
nd 1
15 %
of
WH
O/F
AO
/UN
U e
nerg
y an
d pr
otei
n in
take
s, r
espe
ctiv
ely.
T
hose
that
did
not
ach
ieve
d 87
%
and
104
%, r
espe
ctiv
ely
Gill
ingh
am
(200
3) [
11]
LC
HA
D/T
FP
defic
ienc
yN
= 1
0 (1
–10
year
s)
Mea
n 2.
5 g/
kg/d
ay (
1.3–
5 g/
kg/d
ay)
Prot
ein
12 %
ene
rgy:
MC
T: 1
2L
CT
: 11
CH
O: 6
6
Pros
pect
ive
stud
y. N
o gr
owth
de
ficie
ncie
s ob
serv
ed
Dob
bela
ere
(200
3) [
12]
PKU
N =
20
(0.7
–7 y
ears
)Fr
ance
Mea
n ±
SD
Tota
l pro
tein
: 1.6
7 ±
0.2
3 g/
kg/d
ayN
atur
al p
rote
in m
ean
9.8
g/da
y
67–1
2 %
RD
APr
ospe
ctiv
e, c
ross
sec
tiona
l stu
dy(M
ean
89 %
)Pa
tient
s sh
orte
d an
d lig
hter
than
re
fere
nce
popu
latio
ns. N
o re
latio
nshi
p be
twee
n pr
otei
n an
d ca
lori
e in
take
and
gro
wth
re
tard
atio
nM
acD
onal
d (2
004)
[13
]PK
UN
= 2
5 (2
–10
year
s)U
KPr
otei
n eq
uiva
lent
at 2
g/k
g an
d 1.
2 g/
kg–
Ran
dom
ized
cro
ssov
er s
tudy
Poor
er P
he c
ontr
ol s
een
with
lo
wer
am
ount
of
prot
ein
subs
titut
eH
oeks
ma
(200
5) [
14]
PKU
Net
herl
ands
Mea
n ±
SD
Mea
n ±
SD
Ret
rosp
ectiv
e st
udy.
Hei
ght
grow
th n
ot c
lear
ly r
elat
ed to
pr
otei
n in
take
. Nat
ural
pro
tein
ra
ther
than
tota
l pro
tein
cor
rela
ted
with
hea
d ci
rcum
fere
nce
N =
174
(0–
36 m
onth
s)To
tal p
rote
in: 2
.33
± 0
.42
g/kg
/day
For
first
yea
r of
life
Nat
ural
pro
tein
0.9
9 ±
0.3
4 g/
kg/d
ay27
kJ ±
2.6
kJ/
kg/d
ay
(con
tinue
d)
Appendix D. Studies Describing Protein and Energy Intakes
332
Aut
hor
and
year
Con
ditio
nR
epor
ting
coun
try
Prot
ein
inta
keE
nerg
y in
take
Oth
er
Aco
sta
(200
5)
[15]
UC
DN
= 1
7M
edia
n 4.
4 m
onth
s(0
.22–
38.8
4 m
onth
s)Pr
otoc
ol: p
rote
in
~50
% F
AO
/WH
O/
UN
U o
r as
tole
rate
d.
40–7
0 %
of
prot
ein
from
med
ical
foo
d
USA
Inta
kes
as %
FA
O/W
HO
/UN
U0
to <
6 m
onth
s: 7
06
to <
12 m
onth
s: 6
212
to <
24 m
onth
s: 8
924
to <
36 m
onth
s: 5
936
to <
48 m
onth
s: 3
5, 8
1
Inta
kes
as %
FA
O/W
HO
/U
NU
0 to
<6
mon
ths:
110
6 to
<12
mon
ths:
110
12 to
<24
mon
ths:
89
24 to
<36
mon
ths:
45.
132
36 to
<48
mon
ths:
70.
89
Lon
gitu
dina
l stu
dy. A
dequ
ate
inta
kes
resu
lted
in a
nabo
lism
and
lin
ear
grow
th w
ithou
t inc
reas
ing
amm
onia
. Som
e st
ill f
aile
d to
in
gest
rec
omm
ende
d pr
otei
n an
d en
ergy
inta
kes
Toua
ti (2
006)
[1
6]M
MA
and
PA
N =
137
(85
MM
A, 5
2 PA
)n
= 5
6 D
x 19
70–1
987
n =
81
Dx
1988
–200
5n
= 3
9 se
vere
dis
orde
rD
x >
1988
Fran
ceSe
vere
pat
ient
s on
am
ino
acid
(A
A)
supp
lem
ents
:40
% a
t 3 y
ears
, 50
% 6
–11
year
sIn
take
at 3
, 6, 1
1 ye
ars
g/kg
/day
:G
roup
with
out A
A s
uppl
emen
ts:
Nat
ural
pro
tein
: 0.9
2, 0
.78
0.77
Gro
up w
ith A
A s
uppl
emen
ts:
Nat
ural
pro
tein
: 0.7
5, 0
.74
0.54
Tota
l pro
tein
: 1.2
9, 1
.17,
0.8
9
Ene
rgy
inta
ke k
cal/k
g/da
yN
o A
A s
uppl
emen
ts v
s.
AA
sup
plem
ents
:3
year
s: 9
3.1
vs. 8
5.9
6 ye
ars:
80.
7 vs
. 70.
211
yea
rs: 6
6.4
vs. 5
2.2
Ret
rosp
ectiv
e re
view
. Sin
ce 1
988
all p
atie
nts
trea
ted
with
low
pr
otei
n di
et to
tole
ranc
e an
d on
ly
occa
sion
al u
se o
f A
A
supp
lem
ents
. Met
abol
ic c
ontr
ol
not d
iffe
rent
bet
wee
n gr
oups
Nag
asak
a (2
006)
[17
]O
TC
N =
7Fo
llow
up
age
3–5
year
s
Japa
nIn
fanc
y 1.
3–2.
0 g/
kgO
lder
chi
ldre
n 0.
7–1.
1 g/
kgA
ccor
ding
to a
ge
requ
irem
ents
1,
350–
1,66
0 kc
al
Pros
pect
ive
stud
y to
det
erm
ine
effe
ct o
f re
intr
oduc
tion
of
lar
gini
ne o
n nu
triti
on, g
row
th,
and
urea
cyc
le f
unct
ion
Hue
mer
(20
07)
[18]
PKU
N =
34
Mea
n 8.
7 ye
ars
(2–1
5 ye
ars)
Aus
tria
Mea
n to
tal p
rote
in in
take
g/k
g/da
y:1.
2 ±
0.3
124
% (
77–1
9) D
AC
H 2
000
Nat
ural
pro
tein
0.3
± 2
g/k
g/da
y
–Pr
ospe
ctiv
e lo
ngitu
dina
l stu
dy
with
cro
sss
ectio
nal c
ompo
nent
. A
sig
nific
ant c
orre
latio
n of
fa
tfr
ee m
ass
with
inta
ke o
f na
tura
l pro
tein
rat
her
than
tota
l pr
otei
nSi
ngh
(200
7)
[19]
UC
DU
SAE
AA
sup
plem
ent t
o 50
% p
rote
in in
take
:In
take
dat
a fr
om p
atie
nt c
hart
s fr
om a
utho
r’s
clin
ic. D
iets
mus
t be
indi
vidu
aliz
ed d
epen
ding
on
seve
rity
of
diso
rder
0 to
<3
mon
ths:
2.1
–1.4
g/k
g/d
150–
101
kcal
/kg
3–6
mon
ths:
1.5
–1.2
100–
809
to <
12 m
onth
s: 1
.2–1
.180
–75
1 to
<4
year
s: 1
8.6–
12.5
g/d
ay80
0–1,
040
kcal
/day
4 to
<7
year
s: 2
1.0–
19.0
1,19
6–1,
435
7 to
<11
yea
rs: 2
2.0–
24.0
1,19
9–1,
693
Appendix D. Studies Describing Protein and Energy Intakes
333
Aut
hor
and
year
Con
ditio
nR
epor
ting
coun
try
Prot
ein
inta
keE
nerg
y in
take
Oth
er
Ahr
ing
(200
9)
[20]
PKU
10c
ente
r su
rvey
Eur
ope
Am
ino
acid
sup
plem
enta
tion
decr
ease
d w
ith
age
(g/k
g/da
y)In
fanc
y: ~
2–3
1–10
yea
rs: ~
1.2–
21–
10 y
ears
: ~2–
3 (4
0 %
cen
ters
)>
10 y
ears
: ~1.
0–1.
5
“Nor
mal
” en
ergy
inta
ke
acco
rdin
g to
nat
iona
l or
Eur
opea
n re
com
men
datio
ns
Stru
ctur
ed q
uest
ionn
aire
to a
sses
s pr
actic
e di
ffer
ence
s. S
ubst
antia
l va
riat
ion
in d
ieta
ry g
uide
lines
am
ong
coun
trie
s an
d w
ithin
co
untr
ies.
No
cons
ensu
s op
inio
n ba
sed
on s
olid
sci
entifi
c ra
tiona
leH
ause
r (2
011)
[2
1]M
MA
N =
29
(2–3
5 ye
ars)
Nat
ural
pro
tein
±
amin
o ac
id
supp
lem
ents
±
isol
euci
ne o
r va
line
USA
Tota
l pro
tein
0.3
8–2.
94 g
/kg/
day
Nat
ural
pro
tein
0.2
9–2.
12 g
/kg/
day
(33–
265
% R
DA
)18
/29
had
amin
o ac
id s
uppl
emen
ts 0
.21–
1.95
g/k
g/da
y
23–8
6 kc
al/k
g/da
yPr
ospe
ctiv
e st
udy.
Wid
e va
riat
ion
in th
e di
etar
y tr
eatm
ent o
f M
MA
. RE
E m
ay b
e ov
eres
timat
ed w
ith s
tand
ard
equa
tions
due
to a
ltere
d bo
dy
com
posi
tion
Roc
ha (
2012
) [2
2]PK
UN
= 8
9 (3
–30
year
s)Po
rtug
alPr
otei
n (g
/kg/
day)
:E
nerg
y kc
al/d
:Pr
ospe
ctiv
e st
udy.
Pre
vale
nce
of
over
wei
ght a
nd o
besi
ty, b
ody
fat
perc
enta
ge, a
nd c
entr
al o
besi
ty
wer
e co
mpa
rabl
e to
con
trol
s,
how
ever
hig
her
than
idea
l
<10
yea
rsN
atur
al p
rote
in
1.03
± 0
.51
<10
yea
rs: 2
,171
±
10–1
6 ye
ars:
2,4
67 ±
256
>16
yea
rs: 2
,415
± 3
75Pr
otei
n su
ppl.:
1.
46 ±
0.4
710
–16
year
sN
atur
al p
rote
in
0.65
± 0
.36
Prot
ein
supp
lem
ent
1.42
± 0
.43
>16
yea
rsN
atur
al p
rote
in
0.53
± 0
.35
Prot
ein
supp
l. 1.
07 ±
0.4
2
Gok
men
Oze
l (2
012)
[23
]G
A1
N =
20
N =
9 w
ithou
t en
ceph
alop
athi
c cr
isis
(E
C)
N =
11
with
EC
(2.2
–24.
1 ye
ars)
UK
Patie
nts
with
out E
C:
Prot
ein
inta
ke (
med
ian,
ran
ge)
Nat
ural
: 4/6
(1.
3, 1
.3–1
.7 g
/kg)
Prot
ein
subs
titut
e (1
.6,1
.3–1
.7 g
/kg)
2/6
give
n ge
nera
l pro
tein
res
tric
tion
Patie
nts
with
EC
:T
reat
men
t var
ied.
Low
pro
tein
die
t onl
y.
Prot
ein
subs
titut
e ce
ased
ove
r tim
e
–R
etro
spec
tive
revi
ew. D
ieta
ry
trea
tmen
t dep
ende
nt o
n ag
e of
di
agno
sis
and
sym
ptom
sev
erity
(con
tinue
d)
Appendix D. Studies Describing Protein and Energy Intakes
334
Aut
hor
and
year
Con
ditio
nR
epor
ting
coun
try
Prot
ein
inta
keE
nerg
y in
take
Oth
er
Ada
m (
2012
) [2
4]U
CD
16 I
MD
cen
ters
N =
175
N =
123
(0–1
6 ye
ars)
N =
52
(>16
yea
rs)
UK
Pres
crib
ed p
rote
in in
take
as
WH
O/F
AO
/U
NU
200
7 sa
fe le
vel t
itrat
ed to
met
abol
ic
cont
rol (
g/kg
/day
):
0–6
mon
ths:
2
7–12
mon
ths:
1.6
1–
10 y
ears
: 1.3
11
–16
year
s: 0
.9
>16
yea
rs: 0
.8V
aria
ble
use
of E
AA
–C
ross
sec
tiona
l dat
a de
taili
ng
diet
ary
prac
tices
fro
m 1
6 IM
D
cent
ers
in th
e U
K, c
olle
cted
by
ques
tionn
aire
Ada
m (
2013
) [2
4, 2
5]U
CD
N =
464
Eur
ope
Var
iabl
e fo
r ea
ch c
ondi
tion/
age/
coun
try
Use
of
EA
A s
uppl
emen
ts v
arie
dSu
rvey
: die
tary
trea
tmen
t var
ies
wid
ely
betw
een
cent
ers
Boy
(20
13)
[26]
GA
1N
= 3
3 (0
–6 y
ears
)A
sym
ptom
atic
n =
29
Dys
toni
c n
= 4
Ger
man
yA
sym
ptom
atic
pat
ient
sN
atur
al p
rote
in
Mea
n 10
9 %
(m
edia
n 11
5 %
, SD
20
%)
DA
CH
rec
omm
enda
tions
A
min
o ac
id s
uppl
emen
t
Mea
n 10
8 %
(m
edia
n 11
0 %
, SD
14
%)
of
GA
1 gu
idel
ine
reco
mm
enda
tions
Dys
toni
c pa
tient
s:
Mea
n 12
1 %
(m
edia
n 12
2 %
, SD
8 %
) of
D
AC
H r
ecom
men
datio
ns
Am
ino
acid
sup
plem
ent
M
ean
104
% (
med
ian
103
%, S
D 7
%)
of
GA
1 gu
idel
ine
reco
mm
enda
tions
Asy
mpt
omat
ic p
atie
nts
10
6 %
(m
edia
n 10
2 %
SD
13
%)
of D
AC
H
reco
mm
enda
tions
D
ysto
nic
patie
nts
(mea
n 11
0 %
, med
ian
108
%,
SD 8
%)
Pros
pect
ive
long
itudi
nal s
tudy
. A
min
o ac
id s
uppl
emen
t and
en
ergy
inta
ke d
ecre
ased
with
age
in
asy
mpt
omat
ic g
roup
. Nor
mal
w
eigh
t gai
n in
asy
mpt
omat
ic
grou
p bu
t im
pair
ed in
dys
toni
c gr
oup.
Red
uctio
n in
hei
ght
zsc
ore
for
both
gro
ups
Ald
ámiz
E
chev
arrí
a (2
013)
[27
]
PKU
BH
4 n
= 3
8Sp
ain
2 ye
ars
follo
wu
p gr
oup
g/kg
/day
:D
iet o
nly:
–R
etro
spec
tive
revi
ew. G
row
th
impa
irm
ent a
lso
iden
tified
in
patie
nts
on B
H4
desp
ite h
ighe
r in
take
s of
nat
ural
pro
tein
Die
t onl
y n
= 7
6Fo
llow
ed u
p fo
r 2
and
5 ye
ars
N
atur
al p
rote
in 0
.4 (
0.3–
0.5)
To
tal p
rote
in 1
.4 (
1.0–
2.4)
BH
4 gr
oup:
N
atur
al p
rote
in 0
.8 (
0.5–
1.0)
To
tal p
rote
in 1
.5 (
0.7–
2.2)
5 ye
ar f
ollo
wu
p gr
oup
final
inta
ke:
D
iet o
nly:
N
atur
al p
rote
in 0
.3 (
0.2–
0.4)
To
tal p
rote
in 1
.6 (
1.2–
1.9)
BH
4 gr
oup:
N
atur
al p
rote
in 0
.9 (
0.7–
1.1)
To
tal p
rote
in 1
.2 (
0.7–
1)
Appendix D. Studies Describing Protein and Energy Intakes
335L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Carnitine ester Acylcarnitine name Clinical correlate
C0 Free carnitine Primary carnitine deficiency, CPT1C3 Propionylcarnitine PA, MMAs, mitochondrialC3DC Malonylcarnitine Malonic aciduriaC4 Butyrylcarnitine SCAD, IBD, MADD (GA II)C4OH 3Hydroxybutyrylcarnitine SCHADDC5:1 Tiglylcarnitine BKT, MHBDDC5 Isovalerylcarnitine 3methylbutyrylcarnitine IVA, SBCAD, MADDC5OH Hydroxyisovalerylcarnitine
2methyl3hydroxybutyrylcarnitine3MCC, holocarboxylase, biotinidase, BKT, HMGCoA lyase, 3MGA
C5DC Glutarylcarnitine GA I, MADDC8 Octanoylcarnitine MCADD, MADDC14:1 Tetradecanoylcarnitine VLCADDC16 Hexadecanoylcarnitine CPT II, CACTC16OH Hydroxyhexadecanoylcarnitine LCHADD/TFP
Appendix E. Quick Guide to Acylcarnitine Profiles
337L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Step 1. Nutrition assessment
Definition and purpose Nutrition assessment is a systematic approach to collect, record, and interpret relevant data from patients, clients, family members, caregivers, and other individuals and groups. Nutrition assessment is an ongoing, dynamic process that involves initial data collection as well as continual reassessment and analysis of the patient’s/client’s status compared to specified criteria
Data sources/tools for assessment Screening or referral formPatient/client interviewMedical or health recordsConsultation with other caregivers, including family membersCommunitybased surveys and focus groupsStatistical reports, administrative data, and epidemiologic studies
Types of data collected Food and nutritionrelated historyAnthropometric measurementsBiochemical data, medical tests, and proceduresNutritionfocused physical examination findingsClient history
Nutrition assessment components Review data collected for factors that affect nutrition and health statusCluster individual data elements to identify a nutrition diagnosis as described in diagnosis reference sheetsIdentify standards by which data will be compared
Critical thinking Determining appropriate data to collectDetermining the need for additional informationSelecting assessment tools and procedures that match the situationApplying assessment tools in valid and reliable waysDistinguishing relevant from irrelevant dataDistinguishing important from unimportant dataValidating the data
Determination for continuation of care
If upon completion of an initial or reassessment it is determined that the problem cannot be modified by further nutrition care, discharge or discontinuation from this episode of nutrition care may be appropriate
Step 2. Nutrition diagnosis
Definition and purpose Nutrition diagnosis is a food and nutrition professional’s identification and labeling of an existing nutrition problem that the food and nutrition professional is responsible for treating independently
Data sources/tools for diagnosis Organized assessment data that is clustered for comparison with defining characteristics of suspected diagnoses as listed in diagnosis reference sheets
Appendix F. Nutrition care Process
338
Nutrition diagnosis components The nutrition diagnosis is expressed using nutrition diagnostic terms and the etiologies, signs, and symptoms that have been identified in the reference sheets describing each diagnosis. There are three distinct parts to a nutrition diagnostic statement 1. The nutrition diagnosis describes alterations in a patient’s/client’s status.
A diagnostic label may be accompanied by a descriptor such as “altered,” “excessive,” or “inadequate”
2. Etiology is a factor gathered during the nutrition assessment that contributes to the existence or the maintenance of pathophysiological, psychosocial, situational, developmental, cultural, and/or environmental problems
The etiology is preceded by the words “related to” Identifying the etiology will lead to the selection of a nutrition
intervention aimed at resolving the underlying cause of the nutrition problem whenever possible
Major and minor etiologies may result from medical, genetic, or environmental factors
3. Signs/symptoms (defining characteristics) The defining characteristics are a typical cluster of signs and symptoms that
provide evidence that a nutrition diagnosis exists The signs and symptoms are preceded by the words “as evidenced by” Signs are the observations of a trained clinician Symptoms are changes reported by the patient/client
Nutrition diagnostic statement A wellwritten nutrition diagnostic statement should be: Clear and concise Specific to a patient/client Limited to a single client problem Accurately related to one etiology Based on signs and symptoms from the assessment data
Critical thinking Finding patterns and relationships among the data and possible causesMaking inferencesStating the problem clearly and singularlySuspending judgmentMaking interdisciplinary connectionsRuling in/ruling out specific diagnoses
Determination for continuation of care
Because the nutrition diagnosis step involves naming and describing the problem, the determination for continuation of care follows the nutrition diagnosis step. If a food and nutrition professional does not find a nutrition diagnosis, a patient/client may be referred back to the primary provider. If the potential exists for a nutrition diagnosis to develop, a food and nutrition professional may establish an appropriate method and interval for followup
Step 3. Nutrition intervention
Definition and purpose A nutrition intervention is a purposefully planned action(s) designed with the intent of changing a nutritionrelated behavior, risk factor, environmental condition, or aspect of health status. Nutrition intervention consists of two interrelated components: planning and intervention. The nutrition intervention is typically directed toward resolving the nutrition diagnosis or the nutrition etiology. Less often, it is directed at relieving signs and symptoms
Data sources/tools for interventions The American Dietetic Association’s EvidenceBased Nutrition Practice Guides or other guidelines from professional organizationsThe American Dietetic Association’s Evidence Analysis Library and other secondary evidence such as the Cochrane LibraryCurrent research literatureResults of outcome management studies or quality improvement projects
Appendix F. Nutrition Care Process
339
Nutrition intervention components Planning Prioritize diagnoses based on urgency, impact, and available resources Write a nutrition prescription based on a patient’s/client’s individualized
recommended dietary intake of energy and/or selected foods or nutrients based on current reference standards and dietary guidelines and a patient’s/client’s health condition and nutrition diagnosis
Collaborate with the patient/client to identify goals of the intervention for each diagnosis
Select specific intervention strategies that are focused on the etiology of the problem and that are known to be effective based on best current knowledge and evidence
Define time and frequency of care, including intensity, duration, and followup
Implementation Collaborate with a patient/client and other caregivers to carry out the plan
of care Communicate the plan of nutrition care Modify the plan of care as needed Followup and verify that the plan is being implemented Revise strategies based on changes in condition or response to intervention
Critical thinking Setting goals and prioritizingDefining the nutrition prescription or basic planMaking interdisciplinary connectionsMatching intervention strategies with patient/client needs, nutrition diagnoses, and valuesChoosing from among alternatives to determine a course of actionSpecifying the time and frequency of care
Determination for continuation of care
If a patient/client has met intervention goals or is not at this time able/ready to make needed changes, the food and nutrition professional may discharge the client from this episode of care as part of the planned intervention
Step 4. Nutrition monitoring and evaluation
Definition and purpose Nutrition monitoring and evaluation identifies the amount of progress made and whether goals/expected outcomes are being met. Nutrition monitoring and evaluation identifies outcomes relevant to the nutrition diagnosis and intervention plans and goals
Data sources/tools for monitoring and evaluation
Selfmonitoring data or data from other records including forms, spreadsheets, and computer programsAnthropometric measurements, biochemical data, medical tests, and proceduresPatient/client surveys, pretests, posttests, and/or questionnairesMail or telephone followup
Types of outcomes measured Nutritionrelated historyAnthropometric measurementsBiochemical data, medical tests, and proceduresNutritionfocused physical findings
Appendix F. Nutrition Care Process
340
Nutrition monitoring and evaluation components
This step includes three distinct and interrelated processes: 1. Monitor progress: Check patient/client understanding and compliance with plan Determine whether the intervention is being implemented as prescribed Provide evidence that the plan/intervention strategy is or is not changing
patient/client behavior or status; identify other positive or negative outcomes
Gather information indicating reasons for lack of progress Support conclusions with evidence 2. Measure outcomes: Select outcome indicators that are relevant to the nutrition diagnosis or
signs or symptoms, nutrition goals, medical diagnosis, and outcomes and quality management goals
3. Evaluate outcomes: Compare current findings with previous status, intervention goals, and/or
reference standardsCritical thinking Selecting appropriate indicators/measures
Using appropriate reference standard for comparisonDefining where patient/client is in terms of expected outcomesExplaining variance from expected outcomesDetermining factors that help or hinder progress
Determination for continuation of care
Based on the findings, the food and nutrition professional may actively continue care, or if nutrition care is complete or no further change is expected, discharge the patient/client. If nutrition care is to be continued, reassessment may result in refinements to the diagnosis and intervention. If care does not continue, a patient/client may still be monitored for a change in status and reentry to nutrition care at a later date
Reprinted with permission from the Academy of Nutrition and Dietetics. Copyright 2013. All Rights Reserved
Appendix F. Nutrition Care Process
341L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Appendix G. Dietary Reference Intakes (DRIs)
342
G.1
Es
tim
ated
Ave
rag
e R
equ
irem
ents
(Rep
rin
ted
wit
h p
erm
issi
on
fro
m t
he
Nat
ion
al A
cad
emy
of S
cien
ces,
co
urt
esy
of t
he
Nat
ion
al A
cad
emie
s P
ress
, Was
hin
gto
n, D
.c.)
Lif
e st
age
grou
pC
alci
um
(mg/
day)
CH
O
(g/d
ay)
Prot
ein
(g/k
g/da
y)
Vit
A
(μg/
day)
a
Vit
C
(mg/
day)
Vit
D
(μg/
day)
Vit
E
mg/
day)
b
Thi
amin
(m
g/da
y)
Rib
ofla
vin
(mg/
day)
Nia
cin
(mg/
day)
c
Vit
B6
(mg/
day)
Fola
te
(μg/
day)
d
Vit
B12
(μ
g/da
y)
Cop
per
(μg/
day)
Iodi
ne
(μg/
day)
Iron
(m
g/da
y)
Mag
ne
sium
(m
g/da
y)
Mol
yb
denu
m
(μg/
day)
Phos
ph
orus
(m
g/da
y)Se
leni
um
(μg/
day)
Zin
c (m
g/da
y)
Infa
nts
0–
6 m
onth
s
6–
12 m
onth
s1.
06.
92.
5
Chi
ldre
n
1–
3 ye
ars
500
100
0.87
210
1310
50.
40.
45
0.4
120
0.7
260
653.
065
1338
017
2.5
4–
8 ye
ars
800
100
0.76
275
2210
60.
50.
56
0.5
160
1.0
340
654.
111
017
405
234.
0
Mal
es
9–
13 y
ears
1,10
010
00.
7644
539
109
0.7
0.8
90.
825
01.
554
073
5.9
200
261,
055
357.
0
14
–18
year
s1,
100
100
0.73
630
6310
121.
012
1.1
330
2.0
685
957.
734
033
1,05
545
8.5
19
–30
year
s80
010
00.
6662
575
1012
1.0
121.
132
02.
070
095
633
034
580
459.
4
31
–50
year
s80
010
00.
6662
575
1012
1.0
121.
132
02.
070
095
635
034
580
459.
4
51
–70
year
s80
010
00.
6662
575
1012
1.0
121.
432
02.
070
095
635
034
580
459.
4
>
70 y
ears
1,00
010
00.
6662
575
1012
1.0
121.
432
02.
070
095
635
034
580
459.
4
Fem
ales
9–
13 y
ears
1,10
010
00.
7642
039
109
0.7
0.8
90.
825
01.
554
073
5.7
200
261,
055
357.
0
14
–18
year
s1,
100
100
0.71
485
5610
120.
90.
911
1.0
330
2.0
685
957.
930
033
1,05
545
7.3
19
–30
year
s80
010
00.
6650
060
1012
0.9
0.9
111.
132
02.
070
095
8.1
255
3458
045
6.8
31
–50
y80
010
00.
6650
060
1012
0.9
0.9
111.
132
02.
070
095
8.1
265
3458
045
6.8
51
–70
year
s1,
000
100
0.66
500
6010
120.
90.
911
1.3
320
2.0
700
955
265
3458
045
6.8
>
70 y
ears
1,00
010
00.
6650
060
1012
0.9
0.9
111.
332
02.
070
095
526
534
580
456.
8
Appendix G. Dietary Reference Intakes (DRIs)
343
Preg
nanc
y
14
–18
year
s1,
000
135
0.88
530
6610
121.
21.
214
1.6
520
2.2
785
160
2333
540
1,05
549
10.5
19
–30
year
s80
013
50.
8855
070
1012
1.2
1.2
141.
652
02.
280
016
022
290
4058
049
9.5
31
–50
year
s80
013
50.
8855
070
1012
1.2
1.2
141.
652
02.
280
016
022
300
4058
049
9.5
Lac
tatio
n
14
–18
year
s1,
000
160
1.05
885
9610
161.
21.
313
1.7
450
2.4
985
209
730
035
1,05
559
10.9
19
–30
year
s80
016
01.
0590
010
010
161.
21.
313
1.7
450
2.4
1,00
020
96.
525
536
580
5910
.4
31
–50
year
s80
016
01.
0590
010
010
161.
21.
313
1.7
450
2.4
1,00
020
96.
526
536
580
5910
.4
Sour
ces:
Die
tary
Ref
eren
ce I
ntak
es f
or C
alci
um, P
hosp
horo
us, M
agne
sium
, Vita
min
D, a
nd F
luor
ide
(199
7);
Die
tary
Ref
eren
ce I
ntak
es f
or T
hiam
in, R
ibofl
avin
, Nia
cin,
Vita
min
B6,
Fola
te, V
itam
in B
12,
Pant
othe
nic
Aci
d, B
iotin
, and
Cho
line
(199
8); D
ieta
ry R
efer
ence
Inta
kes
for V
itam
in C
, Vita
min
E, S
elen
ium
, and
Car
oten
oids
(200
0); D
ieta
ry R
efer
ence
Inta
kes
for V
itam
in A
, Vita
min
K, A
rsen
ic, B
oron
, C
hrom
ium
, Cop
per,
Iodi
ne, I
ron,
Man
gane
se, M
olyb
denu
m, N
icke
l, Si
licon
, Van
adiu
m, a
nd Z
inc
(200
1); D
ieta
ry R
efer
ence
Int
akes
for
Ene
rgy,
Car
bohy
drat
e, F
iber
, Fat
, Fat
ty A
cids
, Cho
lest
erol
, Pro
tein
, an
d A
min
o A
cids
(20
02/2
005)
; and
Die
tary
Ref
eren
ce I
ntak
es f
or C
alci
um a
nd V
itam
in D
(20
11).
The
se r
epor
ts m
ay b
e ac
cess
ed v
ia w
ww
.nap
.edu
An
Est
imat
ed A
vera
ge R
equi
rem
ent
(EA
R)
is t
he a
vera
ge d
aily
nut
rien
t in
take
lev
el e
stim
ated
to
mee
t th
e re
quir
emen
ts o
f ha
lf o
f th
e he
alth
y in
divi
dual
s in
a g
roup
. EA
Rs
have
not
bee
n es
tabl
ishe
d fo
r vi
tam
in K
, pan
toth
enic
aci
d, b
iotin
, cho
line,
chr
omiu
m, fl
uori
de, m
anga
nese
, or
othe
r nu
trie
nts
not y
et e
valu
ated
via
the
DR
I pr
oces
sa A
s re
tinol
act
ivity
equ
ival
ents
(R
AE
s). 1
RA
E =
1 μ
g re
tinol
, 12 μg
βc
arot
ene,
24 μg
αc
arot
ene,
or
24 μ
g β
cryp
toxa
nthi
n. T
he R
AE
for
die
tary
pro
vita
min
A c
arot
enoi
ds is
twof
old
grea
ter
than
ret
inol
eq
uiva
lent
s (R
E),
whe
reas
the
RA
E f
or p
refo
rmed
vita
min
A is
the
sam
e as
RE
b As α
toco
pher
ol. α
Toc
ophe
rol i
nclu
des
RR
R-α
- toc
ophe
rol,
the
only
for
m o
f α
toco
pher
ol th
at o
ccur
s na
tura
lly in
foo
ds, a
nd th
e 2R
ste
reoi
som
eric
for
ms
of α
toc
ophe
rol (
RR
R,
RSR
, R
RS
, and
RSS
α
toco
pher
ol)
that
occ
ur i
n fo
rtifi
ed f
oods
and
sup
plem
ents
. It
doe
s no
t in
clud
e th
e 2S
ste
reoi
som
eric
for
ms
of α
toc
ophe
rol
(SR
R,
SSR
, S
RS
, an
d SS
Sα
toco
pher
ol),
als
o fo
und
in f
ortifi
ed f
oods
and
su
pple
men
tsc A
s ni
acin
equ
ival
ents
(N
E).
1 m
g of
nia
cin
= 6
0 m
g of
tryp
toph
and A
s di
etar
y fo
late
equ
ival
ents
(D
FE).
1 D
FE =
1 μ
g fo
od f
olat
e =
0.6
μg
of f
olic
aci
d fr
om f
ortifi
ed f
ood
or a
s a
supp
lem
ent c
onsu
med
with
foo
d =
0.5
μg
of a
sup
plem
ent t
aken
on
an e
mpt
y st
omac
h
Appendix G. Dietary Reference Intakes (DRIs)
344
G.2
R
eco
mm
end
ed D
ieta
ry A
llow
ance
s an
d A
deq
uat
e In
take
s, V
itam
ins
(Rep
rin
ted
wit
h p
erm
issi
on
fr
om
th
e N
atio
nal
Aca
dem
y o
f Sci
ence
s, c
ou
rtes
y o
f th
e N
atio
nal
Aca
dem
ies
Pre
ss, W
ash
ing
ton
, D.c
.)
Lif
e st
age
grou
p
Vita
min
A
(μg
/da
y)a
Vita
min
C
(m
g/da
y)
Vita
min
D
(μg
/da
y)b,
c
Vita
min
E
(m
g/da
y)d
Vita
min
K
(μg
/da
y)T
hiam
in
(mg/
day)
Rib
oflav
in
(mg/
day)
Nia
cin
(mg/
day)
e
Vita
min
B6
(mg/
day)
Fola
te
(μg/
day)
f
Vita
min
B
12 (μg
/da
y)Pa
ntot
heni
c ac
id (
mg/
day)
Bio
tin
(μg/
day)
Cho
line
(mg/
day)
g
Infa
nts
0–
6 m
onth
s40
0*40
*10
4*2.
0*0.
2*0.
3*2*
0.1*
65*
0.4*
1.7*
5*12
5*
6–12
mon
ths
500*
50*
105*
2.5*
0.3*
0.4*
4*0.
3*80
*0.
5*1.
8*6*
150*
Chi
ldre
n
1–3
year
s30
015
156
30*
0.5
0.5
60.
515
00.
92*
8*20
0*
4–8
year
s40
025
157
55*
0.6
0.6
80.
620
01.
23*
12*
250*
Mal
es
9–13
yea
rs60
045
1511
60*
0.9
0.9
121.
030
01.
84*
20*
375*
14
–18
year
s90
075
1515
75*
1.2
1.3
161.
340
02.
45*
25*
550*
19
–30
year
s90
090
1515
120*
1.2
1.3
161.
340
02.
45*
30*
550*
31
–50
year
s90
090
1515
120*
1.2
1.3
161.
340
02.
45*
30*
550*
51
–70
year
s90
090
1515
120*
1.2
1.3
161.
740
02.
4h5*
30*
550*
>
70 y
ears
900
9020
1512
0*1.
21.
316
1.7
400
2.4h
5*30
*55
0*Fe
mal
es
9–13
yea
rs60
045
1511
60*
0.9
0.9
121.
030
01.
84*
20*
375*
14
–18
year
s70
065
1515
75*
1.0
1.0
141.
240
0i2.
45*
25*
400*
19
–30
year
s70
075
1515
90*
1.1
1.1
141.
340
0i2.
45*
30*
425*
31
–50
year
s70
075
1515
90*
1.1
1.1
141.
340
0i2.
45*
30*
425*
51
–70
year
s70
075
1515
90*
1.1
1.1
141.
540
02.
4h5*
30*
425*
>
70 y
ears
700
7520
1590
*1.
11.
114
1.5
400
2.4h
5*30
*42
5*Pr
egna
ncy
14
–18
year
s75
080
1515
75*
1.4
1.4
181.
960
0j2.
66*
30*
450*
19
–30
year
s77
085
1515
90*
1.4
1.4
181.
960
0j2.
66*
30*
450*
31
–50
year
s77
085
1515
90*
1.4
1.4
181.
960
0j2.
66*
30*
450*
Appendix G. Dietary Reference Intakes (DRIs)
345
Lac
tatio
n
14–1
8 ye
ars
1,20
011
515
1975
*1.
41.
617
2.0
500
2.8
7*35
*55
0*
19–3
0 ye
ars
1,30
012
015
1990
*1.
41.
617
2.0
500
2.8
7*35
*55
0*
31–5
0 ye
ars
1,30
012
015
1990
*1.
41.
617
2.0
500
2.8
7*35
*55
0*
Sour
ces:
Die
tary
Ref
eren
ce In
take
s fo
r Cal
cium
, Pho
spho
rous
, Mag
nesi
um, V
itam
in D
, and
Flu
orid
e (1
997)
; Die
tary
Ref
eren
ce In
take
s fo
r Thi
amin
, Rib
oflav
in, N
iaci
n, V
itam
in
B6,
Fol
ate,
Vita
min
B12
, Pa
ntot
heni
c A
cid,
Bio
tin,
and
Cho
line
(199
8);
Die
tary
Ref
eren
ce I
ntak
es f
or V
itam
in C
, V
itam
in E
, Se
leni
um,
and
Car
oten
oids
(20
00);
Die
tary
R
efer
ence
Int
akes
for
Vita
min
A, V
itam
in K
, Ars
enic
, Bor
on, C
hrom
ium
, Cop
per,
Iodi
ne, I
ron,
Man
gane
se, M
olyb
denu
m, N
icke
l, Si
licon
, Van
adiu
m, a
nd Z
inc
(200
1); D
ieta
ry
Ref
eren
ce In
take
s fo
r Wat
er, P
otas
sium
, Sod
ium
, Chl
orid
e, a
nd S
ulfa
te (2
005)
; and
Die
tary
Ref
eren
ce In
take
s fo
r Cal
cium
and
Vita
min
D (2
011)
. The
se re
port
s m
ay b
e ac
cess
ed
via
ww
w.n
ap.e
duT
his
tabl
e (t
aken
fro
m th
e D
RI
repo
rts,
see
ww
w.n
ap.e
du)
pres
ents
Rec
omm
ende
d D
ieta
ry A
llow
ance
s (R
DA
s) i
n bo
ld t
ype
and
Ade
quat
e In
take
s (A
Is)
in o
rdin
ary
type
fol
lo
wed
by
an a
ster
isk
(*).
An
RD
A is
the
aver
age
daily
die
tary
inta
ke le
vel s
uffic
ient
to m
eet t
he n
utri
ent r
equi
rem
ents
of
near
ly a
ll (9
7–98
%)
heal
thy
indi
vidu
als
in a
gro
up. I
t is
cal
cula
ted
from
an
Est
imat
ed A
vera
ge R
equi
rem
ent (
EA
R).
If
suffi
cien
t sci
entifi
c ev
iden
ce is
not
ava
ilabl
e to
est
ablis
h an
EA
R a
nd th
us c
alcu
late
an
RD
A, a
n A
I is
usu
ally
de
velo
ped.
For
hea
lthy
brea
stfe
d in
fant
s, a
n A
I is
the
mea
n in
take
. The
AI
for
othe
r lif
e st
age
and
gend
er g
roup
s is
bel
ieve
d to
cov
er th
e ne
eds
of a
ll he
alth
y in
divi
dual
s in
the
grou
ps, b
ut la
ck o
f da
ta o
r un
cert
aint
y in
the
data
pre
vent
s be
ing
able
to s
peci
fy w
ith c
onfid
ence
the
perc
enta
ge o
f in
divi
dual
s co
vere
d by
this
inta
kea A
s re
tinol
act
ivity
equ
ival
ents
(R
AE
s). 1
RA
E =
1 μ
g re
tinol
, 12 μg
βc
arot
ene,
24 μg
αc
arot
ene,
or
24 μ
g β
cryp
toxa
nthi
n. T
he R
AE
for
die
tary
pro
vita
min
A c
arot
enoi
ds is
tw
ofol
d gr
eate
r th
an r
etin
ol e
quiv
alen
ts (
RE
), w
here
as th
e R
AE
for
pre
form
ed v
itam
in A
is th
e sa
me
as R
Eb A
s ch
olec
alci
fero
l. 1 μg
cho
leca
lcif
erol
= 4
0 IU
vita
min
Dc U
nder
the
assu
mpt
ion
of m
inim
al s
unlig
htd A
s α
toco
pher
ol. α
Toco
pher
ol i
nclu
des
RR
R-α
- toc
ophe
rol,
the
only
for
m o
f α
toco
pher
ol t
hat
occu
rs n
atur
ally
in
food
s, a
nd t
he 2
Rs
tere
oiso
mer
ic f
orm
s of
αt
ocop
hero
l (R
RR
, R
SR,
RR
S, a
nd R
SSα
toc
ophe
rol)
that
occ
ur in
for
tified
foo
ds a
nd s
uppl
emen
ts. I
t doe
s no
t inc
lude
the
2Ss
tere
oiso
mer
ic f
orm
s of
αt
ocop
hero
l (SR
R,
SSR
, S
RS
, and
SS
Sα
toco
pher
ol),
als
o fo
und
in f
ortifi
ed f
oods
and
sup
plem
ents
e As
niac
in e
quiv
alen
ts (
NE
). 1
mg
of n
iaci
n =
60
mg
of tr
ypto
phan
; 0–6
mon
ths
= p
refo
rmed
nia
cin
(not
NE
)f A
s di
etar
y fo
late
equ
ival
ents
(D
FE).
1 D
FE =
1 μ
g fo
od f
olat
e =
0.6
μg
of f
olic
aci
d fr
om f
ortifi
ed f
ood
or a
s a
supp
lem
ent c
onsu
med
with
foo
d =
0.5
μg
of a
sup
plem
ent t
aken
on
an
empt
y st
omac
hg A
lthou
gh A
Is h
ave
been
set
for
cho
line,
ther
e ar
e fe
w d
ata
to a
sses
s w
heth
er a
die
tary
sup
ply
of c
holin
e is
nee
ded
at a
ll st
ages
of
the
life
cycl
e, a
nd it
may
be
that
the
chol
ine
requ
irem
ent c
an b
e m
et b
y en
doge
nous
syn
thes
is a
t som
e of
thes
e st
ages
h Bec
ause
10–
30 %
of
olde
r pe
ople
may
mal
abso
rb f
ood
boun
d B
12, i
t is
advi
sabl
e fo
r th
ose
olde
r th
an 5
0 ye
ars
to m
eet t
heir
RD
A m
ainl
y by
con
sum
ing
food
s fo
rtifi
ed w
ith B
12
or a
sup
plem
ent c
onta
inin
g B
12i In
vie
w o
f evi
denc
e lin
king
fola
te in
take
with
neu
ral t
ube
defe
cts
in th
e fe
tus,
it is
reco
mm
ende
d th
at a
ll w
omen
cap
able
of b
ecom
ing
preg
nant
con
sum
e 40
0 μg
from
sup
plem
ents
or
for
tified
foo
ds in
add
ition
to in
take
of
food
fol
ate
from
a v
arie
d di
etJ I
t is
assu
med
that
wom
en w
ill c
ontin
ue c
onsu
min
g 40
0 μg
fro
m s
uppl
emen
ts o
r fo
rtifi
ed f
ood
until
thei
r pr
egna
ncy
is c
onfir
med
and
they
ent
er p
rena
tal c
are,
whi
ch o
rdin
arily
oc
curs
aft
er th
e en
d of
the
peri
conc
eptio
nal p
erio
d –
the
criti
cal t
ime
for
form
atio
n of
the
neur
al tu
be
Appendix G. Dietary Reference Intakes (DRIs)
346
G.3
R
eco
mm
end
ed D
ieta
ry A
llow
ance
s an
d A
deq
uat
e In
take
s, E
lem
ents
(Rep
rin
ted
wit
h p
erm
issi
on
fr
om
th
e N
atio
nal
Aca
dem
y o
f Sci
ence
s, c
ou
rtes
y o
f th
e N
atio
nal
Aca
dem
ies
Pre
ss, W
ash
ing
ton
, D.c
.)
Lif
e st
age
grou
p
Cal
cium
(m
g/da
y)C
hrom
ium
(μ
g/da
y)
Cop
per
(μg/
day)
Fluo
ride
(m
g/da
y)
Iodi
ne
(μg/
day)
Iron
(m
g/da
y)M
agne
sium
(m
g/da
y)M
anga
nese
(m
g/da
y)M
olyb
denu
m
(μg/
day)
Phos
phor
us
(mg/
day)
Sele
nium
(μ
g/da
y)
Zin
c (m
g/da
y)Po
tass
ium
(g
/day
)So
dium
(g
/day
)C
hlor
ide
(g/d
ay)
Infa
nts
0–
6 m
onth
s20
0*0.
2*20
0*0.
01*
110*
0.27
*30
*0.
003*
2*10
0*15
*2*
0.4*
0.12
*0.
18*
6–
12 m
onth
s26
0*5.
5*22
0*0.
5*13
0*11
75*
0.6*
3*27
5*20
*3
0.7*
0.37
*0.
57*
Chi
ldre
n
1–3
year
s70
011
*34
00.
7*90
780
1.2*
1746
020
33.
0*1.
0*1.
5*
4–8
year
s1,
000
15*
440
1*90
1013
01.
5*22
500
305
3.8*
1.2*
1.9*
Mal
es
9–13
yea
rs1,
300
25*
700
2*12
08
240
1.9*
341,
250
408
4.5*
1.5*
2.3*
14
–18
year
s1,
300
35*
890
3*15
011
410
2.2*
431,
250
5511
4.7*
1.5*
2.3*
19
–30
year
s1,
000
35*
900
4*15
08
400
2.3*
4570
055
114.
7*1.
5*2.
3*
31–5
0 ye
ars
1,00
035
*90
04*
150
842
02.
3*45
700
5511
4.7*
1.5*
2.3*
51
–70
year
s1,
000
30*
900
4*15
08
420
2.3*
4570
055
114.
7*1.
3*2.
0*
>70
yea
rs1,
200
30*
900
4*15
08
420
2.3*
4570
055
114.
7*1.
2*1.
8*Fe
mal
es
9–13
yea
rs1,
300
21*
700
2*12
08
240
1.6*
341,
250
408
4.5*
1.5*
2.3*
14
–18
year
s1,
300
24*
890
3*15
015
360
1.6*
431,
250
559
4.7*
1.5*
2.3*
19
–30
year
s1,
000
25*
900
3*15
018
310
1.8*
4570
055
84.
7*1.
5*2.
3*
31–5
0 ye
ars
1,00
025
*90
03*
150
1832
01.
8*45
700
558
4.7*
1.5*
2.3*
51
–70
year
s1,
200
20*
900
3*15
08
320
1.8*
4570
055
84.
7*1.
3*2.
0*
>70
yea
rs1,
200
20*
900
3*15
08
320
1.8*
4570
055
84.
7*1.
2*1.
8*
Appendix G. Dietary Reference Intakes (DRIs)
347
Preg
nanc
y
14–1
yea
rs1,
300
29*
1,00
03*
220
2740
02.
0*50
1,25
060
124.
7*1.
5*2.
3*
19–3
0 ye
ars
1,00
030
*1,
000
3*22
027
350
2.0*
5070
060
114.
7*1.
5*2.
3*
31–5
0 ye
ars
1,00
030
*1,
000
3*22
027
360
2.0*
5070
060
114.
7*1.
5*2.
3*L
acta
tion
14
–18
year
s1,
300
44*
1,30
03*
290
1036
02.
6*50
1,25
070
135.
1*1.
5*2.
3*
19–3
0 ye
ars
1,00
045
*1,
300
3*29
09
310
2.6*
5070
070
125.
1*1.
5*2.
3*
31–5
0 ye
ars
1,00
045
*1,
300
3*29
09
320
2.6*
5070
070
125.
1*1.
5*2.
3*
Sour
ces:
Die
tary
Ref
eren
ce I
ntak
es f
or C
alci
um, P
hosp
horo
us, M
agne
sium
, Vita
min
D, a
nd F
luor
ide
(199
7); D
ieta
ry R
efer
ence
Int
akes
for
Thi
amin
, Rib
oflav
in, N
iaci
n, V
itam
in B
6, Fo
late
, Vita
min
B12
, Pan
toth
enic
Aci
d, B
iotin
, and
Cho
line
(199
8);
Die
tary
Ref
eren
ce I
ntak
es f
or V
itam
in C
, Vita
min
E, S
elen
ium
, and
Car
oten
oids
(20
00);
and
Die
tary
Ref
eren
ce
Inta
kes
for V
itam
in A
, Vita
min
K, A
rsen
ic, B
oron
, Chr
omiu
m, C
oppe
r, Io
dine
, Iro
n, M
anga
nese
, Mol
ybde
num
, Nic
kel,
Silic
on, V
anad
ium
, and
Zin
c (2
001)
; Die
tary
Ref
eren
ce In
take
s fo
r W
ater
, Pot
assi
um, S
odiu
m, C
hlor
ide,
and
Sul
fate
(20
05);
and
Die
tary
Ref
eren
ce I
ntak
es f
or C
alci
um a
nd V
itam
in D
(20
11).
The
se r
epor
ts m
ay b
e ac
cess
ed v
ia w
ww
.nap
.edu
Thi
s ta
ble
(tak
en f
rom
the
DR
I re
port
s, s
ee w
ww
.nap
.edu
) pr
esen
ts R
ecom
men
ded
Die
tary
Allo
wan
ces
(RD
As)
in b
old
type
and
Ade
quat
e In
take
s (A
Is)
in o
rdin
ary
type
fol
low
ed b
y an
ast
eris
k (*
). A
n R
DA
is th
e av
erag
e da
ily d
ieta
ry in
take
leve
l suf
ficie
nt to
mee
t the
nut
rien
t req
uire
men
ts o
f nea
rly
all (
97–9
8 %
) hea
lthy
indi
vidu
als
in a
gro
up. I
t is
calc
ulat
ed fr
om
an E
stim
ated
Ave
rage
Req
uire
men
t (E
AR
). I
f su
ffici
ent
scie
ntifi
c ev
iden
ce i
s no
t av
aila
ble
to e
stab
lish
an E
AR
and
thu
s ca
lcul
ate
an R
DA
, an
AI
is u
sual
ly d
evel
oped
. For
hea
lthy
brea
stfe
d in
fant
s, a
n A
I is
the
mea
n in
take
. The
AI
for
othe
r lif
e st
age
and
gend
er g
roup
s is
bel
ieve
d to
cov
er t
he n
eeds
of
all
heal
thy
indi
vidu
als
in t
he g
roup
s, b
ut l
ack
of d
ata
or
unce
rtai
nty
in th
e da
ta p
reve
nts
bein
g ab
le to
spe
cify
with
con
fiden
ce th
e pe
rcen
tage
of
indi
vidu
als
cove
red
by th
is in
take
Appendix G. Dietary Reference Intakes (DRIs)
348
G.4 Recommended Dietary Allowances and Adequate Intakes, Total Water and Macronutrients (Reprinted with permission from the National Academy of Sciences, courtesy of the National Academies Press, Washington, D.c.)
Life stage group
Total watera (L/day)
Carbohydrate (g/day)
Total fiber (g/day)
Fat (g/day)
Linoleic acid (g/day)
αLinolenic acid (g/day)
Proteinb (g/day)
Infants 0–6 months 0.7* 60* ND 31* 4.4* 0.5* 9.1* 6–12 months 0.8* 95* ND 30* 4.6* 0.5* 11.0Children 1–3 years 1.3* 130 19* NDc 7* 0.7* 13 4–8 years 1.7* 130 25* ND 10* 0.9* 19Males 9–13 years 2.4* 130 31* ND 12* 1.2* 34 14–18 years 3.3* 130 38* ND 16* 1.6* 52 19–30 years 3.7* 130 38* ND 17* 1.6* 56 31–50 years 3.7* 130 38* ND 17* 1.6* 56 51–70 years 3.7* 130 30* ND 14* 1.6* 56 >70 years 3.7* 130 30* ND 14* 1.6* 56Females 9–13 years 2.1* 130 26* ND 10* 1.0* 34 14–18 years 2.3* 130 26* ND 11* 1.1* 46 19–30 years 2.7* 130 25* ND 12* 1.1* 46 31–50 years 2.7* 130 25* ND 12* 1.1* 46 51–70 years 2.7* 130 21* ND 11* 1.1* 46 >70 years 2.7* 130 21* ND 11* 1.1* 46Pregnancy 14–18 years 3.0* 175 28* ND 13* 1.4* 71 19–30 years 3.0* 175 28* ND 13* 1.4* 71 31–50 years 3.0* 175 28* ND 13* 1.4* 71Lactation 14–18 3.8* 210 29* ND 13* 1.3* 71 19–30 years 3.8* 210 29* ND 13* 1.3* 71 31–50 years 3.8* 210 29* ND 13* 1.3* 71
Source: Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids (2002/2005) and Dietary Reference Intakes for Water, Potassium, Sodium, Chloride, and Sulfate (2005). The report may be accessed via www.nap.eduThis table (take from the DRI reports, see www.nap.edu) presents Recommended Dietary Allowances (RDA) in bold type and Adequate Intakes (AI) in ordinary type followed by an asterisk (*). An RDA is the average daily dietary intake level sufficient to meet the nutrient requirements of nearly all (97–98 %) healthy individuals in a group. It is calculated from an Estimated Average Requirement (EAR). If sufficient scientific evidence is not available to establish an EAR and thus calculate an RDA, an AI is usually developed. For healthy breastfed infants, an AI is the mean intake. The AI for other life stage and gender groups is believed to cover the needs of all healthy individuals in the groups, but lack of data or uncertainty in the data prevents being able to specify with confidence the percentage of individuals covered by this intakeaTotal water includes all water contained in food, beverages, and drinking waterbBased on g protein per kg of body weight for the reference body weight, e.g., for adults 0.8 g/kg body weight for the reference body weightcNot determined
Appendix G. Dietary Reference Intakes (DRIs)
349
G.5 Acceptable Macronutrient Distribution Ranges (Reprinted with permission from the National Academy of Sciences, courtesy of the National Academies Press, Washington, D.c.)
Macronutrient
Range (percent of energy)
Children, 1–3 years
Children, 4–18 years Adults
Fat 30–40 25–35 20–35 n6 Polyunsaturated fatty acidsa (linoleic acid) 5–10 5–10 5–10 n3 Polyunsaturated fatty acidsa (α–linolenic acid) 0.6–1.2 0.6–1.2 0.6–1.2Carbohydrate 45–65 45–65 45–65Protein 5–20 10–30 10–35
Source: Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids (2002/2005). The report may be accessed via www.nap.eduaApproximately 10 % of the total can come from longer chain n3 or n6 fatty acids
G.6 Acceptable Macronutrient Distribution Ranges (Reprinted with permission from the National Academy of Sciences, courtesy of the National Academies Press, Washington, D.c.)
Macronutrient Recommendation
Dietary cholesterol As low as possible while consuming a nutritionally adequate dietTrans fatty acids As low as possible while consuming a nutritionally adequate dietSaturated fatty acids As low as possible while consuming a nutritionally adequate dietAdded sugarsa Limit to no more than 25 % of total energy
Source: Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids (2002/2005). The report may be accessed via www.nap.eduaNot a recommended intake. A daily intake of added sugars that individuals should aim for to achieve a healthful diet was not set
Appendix G. Dietary Reference Intakes (DRIs)
350
G.7
To
lera
ble
Up
per
Inta
ke L
evel
s, V
itam
ins
(Rep
rin
ted
wit
h p
erm
issi
on
fro
m t
he
Nat
ion
al A
cad
emy
of S
cien
ces,
c
ou
rtes
y o
f th
e N
atio
nal
Aca
dem
ies
Pre
ss, W
ash
ing
ton
, D.c
.)
Lif
e st
age
grou
p
Vita
min
A
(μg
/da
y)a
Vita
min
C
(m
g/da
y)
Vita
min
D
(μg
/da
y)
Vita
min
E
(m
g/da
y)b,
c
Vita
min
K
Thi
amin
Rib
oflav
in
Nia
cin
(mg/
day)
c
Vita
min
B6
(mg/
day)
Fola
te
(μg/
day)
c
Vita
min
B
12
Pant
othe
nic
acid
Bio
tinC
holin
e (g
/day
)C
arot
enoi
dsd
Infa
nts
0–
6 m
onth
s60
0N
De
25N
DN
DN
DN
DN
DN
DN
DN
DN
DN
DN
DN
D
6–12
mon
ths
600
ND
38N
DN
DN
DN
DN
DN
DN
DN
DN
DN
DN
DN
DC
hild
ren
1–
3 ye
ars
600
400
6320
0N
DN
DN
D10
3030
0N
DN
DN
D1.
0N
D
4–8
year
s90
065
075
300
ND
ND
ND
1540
400
ND
ND
ND
1.0
ND
Mal
es
9–13
yea
rs1,
700
1,20
010
060
0N
DN
DN
D20
6060
0N
DN
DN
D2.
0N
D
14–1
8 ye
ars
2,80
01,
800
100
800
ND
ND
ND
3080
800
ND
ND
ND
3.0
ND
19
–30
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
31
–50
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
51
–70
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
>
70 y
ears
3,00
02,
000
100
1,00
0N
DN
DN
D35
100
1,00
0N
DN
DN
D3.
5N
DFe
mal
es
9–13
yea
rs1,
700
1,20
010
060
0N
DN
DN
D20
6060
0N
DN
DN
D2.
0N
D
14–1
8 ye
ars
2,80
01,
800
100
800
ND
ND
ND
3080
800
ND
ND
ND
3.0
ND
19
–30
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
31
–50
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
51
–70
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
>
70 y
ears
3,00
02,
000
100
1,00
0N
DN
DN
D35
100
1,00
0N
DN
DN
D3.
5N
D
Appendix G. Dietary Reference Intakes (DRIs)
351
Preg
nanc
y
14–1
8 ye
ars
2,80
01,
800
100
800
ND
ND
ND
3080
800
ND
ND
ND
3.0
ND
19
–30
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
31
–50
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
Lac
tatio
n
14–1
8 ye
ars
2,80
01,
800
100
800
ND
ND
ND
3080
800
ND
ND
ND
3.0
ND
19
–30
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
31
–50
year
s3,
000
2,00
010
01,
000
ND
ND
ND
3510
01,
000
ND
ND
ND
3.5
ND
Sour
ces:
Die
tary
Ref
eren
ce In
take
s fo
r Cal
cium
, Pho
spho
rous
, Mag
nesi
um, V
itam
in D
, and
Flu
orid
e (1
997)
; Die
tary
Ref
eren
ce In
take
s fo
r Thi
amin
, Rib
oflav
in, N
iaci
n, V
itam
in
B6,
Fola
te, V
itam
in B
12, P
anto
then
ic A
cid,
Bio
tin, a
nd C
holin
e (1
998)
; Die
tary
Ref
eren
ce In
take
s fo
r Vita
min
C, V
itam
in E
, Sel
eniu
m, a
nd C
arot
enoi
ds (2
000)
; Die
tary
Ref
eren
ce
Inta
kes
for
Vita
min
A,
Vita
min
K,
Ars
enic
, B
oron
, C
hrom
ium
, C
oppe
r, Io
dine
, Ir
on,
Man
gane
se,
Mol
ybde
num
, N
icke
l, Si
licon
, V
anad
ium
, an
d Z
inc
(200
1);
and
Die
tary
R
efer
ence
Int
akes
for
Cal
cium
and
Vita
min
D (
2011
). T
hese
rep
orts
may
be
acce
ssed
via
ww
w.n
ap.e
duA
Tol
erab
le U
pper
Inta
ke L
evel
(UL
) is
the
high
est l
evel
of d
aily
nut
rien
t int
ake
that
is li
kely
to p
ose
no ri
sk o
f adv
erse
hea
lth e
ffec
ts to
alm
ost a
ll in
divi
dual
s in
the
gene
ral p
opu
latio
n. U
nles
s ot
herw
ise
spec
ified
, the
UL
rep
rese
nts
tota
l int
ake
from
foo
d, w
ater
, and
sup
plem
ents
. Due
to a
lack
of
suita
ble
data
, UL
s co
uld
not b
e es
tabl
ishe
d fo
r vi
tam
in K
, th
iam
in,
ribo
flavi
n, v
itam
in B
12,
pant
othe
nic
acid
, bi
otin
, an
d ca
rote
noid
s. I
n th
e ab
senc
e of
a U
L,
extr
a ca
utio
n m
ay b
e w
arra
nted
in
cons
umin
g le
vels
abo
ve r
ecom
men
ded
inta
kes.
Mem
bers
of t
he g
ener
al p
opul
atio
n sh
ould
be
advi
sed
not t
o ro
utin
ely
exce
ed th
e U
L. T
he U
L is
not
mea
nt to
app
ly to
indi
vidu
als
who
are
trea
ted
with
the
nutr
ient
und
er
med
ical
sup
ervi
sion
or
to in
divi
dual
s w
ith p
redi
spos
ing
cond
ition
s th
at m
odif
y th
eir
sens
itivi
ty to
the
nutr
ient
a As
pref
orm
ed v
itam
in A
onl
yb A
s α
toco
pher
ol; a
pplie
s to
any
for
m o
f su
pple
men
tal α
toc
ophe
rol
c The
UL
s fo
r vi
tam
in E
, nia
cin,
and
fol
ate
appl
y to
syn
thet
ic f
orm
s ob
tain
ed f
rom
sup
plem
ents
, for
tified
foo
ds, o
r a
com
bina
tion
of th
e tw
od β
Car
oten
e su
pple
men
ts a
re a
dvis
ed o
nly
to s
erve
as
a pr
ovita
min
A s
ourc
e fo
r in
divi
dual
s at
ris
k of
vita
min
A d
efici
ency
e ND
not
det
erm
inab
le d
ue to
lack
of d
ata
of a
dver
se e
ffec
ts in
this
age
gro
up a
nd c
once
rn w
ith re
gard
to la
ck o
f abi
lity
to h
andl
e ex
cess
am
ount
s. S
ourc
e of
inta
ke s
houl
d be
from
fo
od o
nly,
to p
reve
nt h
igh
leve
ls o
f in
take
Appendix G. Dietary Reference Intakes (DRIs)
352
G.8
To
lera
ble
Up
per
Inta
ke L
evel
s, E
lem
ents
(Rep
rin
ted
wit
h p
erm
issi
on
fro
m t
he
Nat
ion
al A
cad
emy
of S
cien
ces,
c
ou
rtes
y o
f th
e N
atio
nal
Aca
dem
ies
Pre
ss, W
ash
ing
ton
, D.c
.)
Lif
e st
age
grou
pA
rsen
ica
Bor
on
(mg/
day)
Cal
cium
(m
g/da
y)C
hro
miu
m
Cop
per
(μg/
day)
Fluo
ride
(m
g/da
y)
Iodi
ne
(μg/
day)
Iron
(m
g/da
y)M
agne
sium
(m
g/da
y)b
Man
gane
se
(mg/
day)
Mol
ybde
num
(μ
g/da
y)
Nic
kel
(mg/
day)
Phos
phor
us
(g/d
ay)
Sele
nium
(μ
g/da
y)Si
licon
c
Van
adiu
m
(mg/
day)
d
Zin
c (m
g/da
y)So
dium
(g
/day
)C
hlor
ide
(g/d
ay)
Infa
nts
0–
6 m
onth
sN
De
ND
1,00
0N
DN
D0.
7N
D40
ND
ND
ND
ND
ND
45N
DN
D4
ND
ND
6–
12 m
onth
sN
DN
D1,
500
ND
ND
0.9
ND
40N
DN
DN
DN
DN
D60
ND
ND
5N
DN
D
Chi
ldre
n
1–
3 ye
ars
ND
32,
500
ND
1,00
01.
320
040
652
300
0.2
390
ND
ND
71.
52.
3
4–
8 ye
ars
ND
62,
500
ND
3,00
02.
230
040
110
360
00.
33
150
ND
ND
121.
92.
9
Mal
es
9–
13 y
ears
ND
113,
000
ND
5,00
010
600
4035
06
1,10
00.
64
280
ND
ND
232.
23.
4
14
–18
year
sN
D17
3,00
0N
D8,
000
1090
045
350
91,
700
1.0
440
0N
DN
D34
2.3
3.6
19
–30
year
sN
D20
2,50
0N
D10
,000
101,
100
4535
011
2,00
01.
04
400
ND
1.8
402.
33.
6
31
–50
year
sN
D20
2,50
0N
D10
,000
101,
100
4535
011
2,00
01.
04
400
ND
1.8
402.
33.
6
51
–70
year
sN
D20
2,00
0N
D10
,000
101,
100
4535
011
2,00
01.
04
400
ND
1.8
402.
33.
6
>
70 y
ears
ND
202,
000
ND
10,0
0010
1,10
045
350
112,
000
1.0
340
0N
D1.
840
2.3
3.6
Fem
ales
9–
13 y
ears
ND
113,
000
ND
5,00
010
600
4035
06
1,10
00.
64
280
ND
ND
232.
23.
4
14
–18
year
sN
D17
3,00
0N
D8,
000
1090
045
350
91,
700
1.0
440
0N
DN
D34
2.3
3.6
19
–30
year
sN
D20
2,50
0N
D10
,000
101,
100
4535
011
2,00
01.
04
400
ND
1.8
402.
33.
6
31
–50
year
sN
D20
2,50
0N
D10
,000
101,
100
4535
011
2,00
01.
04
400
ND
1.8
402.
33.
6
51
–70
year
sN
D20
2,00
0N
D10
,000
101,
100
4535
011
2,00
01.
04
400
ND
1.8
402.
33.
6
>
70 y
ears
ND
202,
000
ND
10,0
0010
1,10
045
350
112,
000
1.0
340
0N
D1.
840
2.3
3.6
Preg
nanc
y
14
–18
year
sN
D17
3,00
0N
D8,
000
1090
045
350
91,
700
1.0
3.5
400
ND
ND
342.
33.
6
19
–30
year
sN
D20
2,50
0N
D10
,000
101,
100
4535
011
2,00
01.
03.
540
0N
DN
D40
2.3
3.6
61
–50
year
sN
D20
2,50
0N
D10
,000
101,
100
4535
011
2,00
01.
03.
540
0N
DN
D40
2.3
3.6
Appendix G. Dietary Reference Intakes (DRIs)
353
Lif
e st
age
grou
pA
rsen
ica
Bor
on
(mg/
day)
Cal
cium
(m
g/da
y)C
hro
miu
m
Cop
per
(μg/
day)
Fluo
ride
(m
g/da
y)
Iodi
ne
(μg/
day)
Iron
(m
g/da
y)M
agne
sium
(m
g/da
y)b
Man
gane
se
(mg/
day)
Mol
ybde
num
(μ
g/da
y)
Nic
kel
(mg/
day)
Phos
phor
us
(g/d
ay)
Sele
nium
(μ
g/da
y)Si
licon
c
Van
adiu
m
(mg/
day)
d
Zin
c (m
g/da
y)So
dium
(g
/day
)C
hlor
ide
(g/d
ay)
Lac
tatio
n
14
–18
year
sN
D17
3,00
0N
D8,
000
1090
045
350
91,
700
1.0
440
0N
DN
D34
2.3
3.6
19
–30
year
sN
D20
2,50
0N
D10
,000
101,
100
4535
011
2,00
01.
04
400
ND
ND
402.
33.
6
31
–50
year
sN
D20
2,50
0N
D10
,000
101,
100
4535
011
2,00
01.
04
400
ND
ND
402.
33.
6
Sour
ces:
Die
tary
Ref
eren
ce I
ntak
es f
or C
alci
um, P
hosp
horo
us, M
agne
sium
, Vita
min
D, a
nd F
luor
ide
(199
7); D
ieta
ry R
efer
ence
Int
akes
for
Thi
amin
, Rib
oflav
in, N
iaci
n, V
itam
in B
6, Fo
late
, Vita
min
B12
, Pan
toth
enic
Aci
d, B
iotin
, and
Cho
line
(199
8); D
ieta
ry R
efer
ence
Inta
kes
for V
itam
in C
, Vita
min
E, S
elen
ium
, and
Car
oten
oids
(200
0); D
ieta
ry R
efer
ence
Inta
kes
for
Vita
min
A, V
itam
in K
, Ars
enic
, Bor
on, C
hrom
ium
, Cop
per,
Iodi
ne, I
ron,
Man
gane
se, M
olyb
denu
m, N
icke
l, Si
licon
, Van
adiu
m, a
nd Z
inc
(200
1); D
ieta
ry R
efer
ence
Int
akes
for
W
ater
, Pot
assi
um, S
odiu
m, C
hlor
ide,
and
Sul
fate
(20
05);
and
Die
tary
Ref
eren
ce I
ntak
es f
or C
alci
um a
nd V
itam
in D
(20
11).
The
se r
epor
ts m
ay b
e ac
cess
ed v
ia w
ww
.nap
.edu
A T
oler
able
Upp
er I
ntak
e L
evel
(U
L)
is th
e hi
ghes
t lev
el o
f da
ily n
utri
ent i
ntak
e th
at is
like
ly to
pos
e no
ris
k of
adv
erse
hea
lth e
ffec
ts to
alm
ost a
ll in
divi
dual
s in
the
gene
ral p
opul
atio
n. U
nles
s ot
herw
ise
spec
ified
, the
UL
repr
esen
ts to
tal i
ntak
e fr
om fo
od, w
ater
, and
sup
plem
ents
. Due
to a
lack
of s
uita
ble
data
, UL
s co
uld
not b
e es
tabl
ishe
d fo
r vita
min
K, t
hiam
in,
ribo
flavi
n, v
itam
in B
12, p
anto
then
ic a
cid,
bio
tin, a
nd c
arot
enoi
ds. I
n th
e ab
senc
e of
a U
L, e
xtra
cau
tion
may
be
war
rant
ed in
con
sum
ing
leve
ls a
bove
rec
omm
ende
d in
take
s. M
embe
rs
of th
e ge
nera
l pop
ulat
ion
shou
ld b
e ad
vise
d no
t to
rout
inel
y ex
ceed
the
UL
. The
UL
is n
ot m
eant
to a
pply
to in
divi
dual
s w
ho a
re tr
eate
d w
ith th
e nu
trie
nt u
nder
med
ical
sup
ervi
sion
or
to in
divi
dual
s w
ith p
redi
spos
ing
cond
ition
s th
at m
odif
y th
eir
sens
itivi
ty to
the
nutr
ient
a Alth
ough
the
UL
was
not
det
erm
ined
for
ars
enic
, the
re is
no
just
ifica
tion
for
addi
ng a
rsen
ic to
foo
d or
sup
plem
ents
b The
UL
s fo
r m
agne
sium
rep
rese
nt in
take
fro
m a
pha
rmac
olog
ical
age
nt o
nly
and
do n
ot in
clud
e in
take
fro
m f
ood
and
wat
erc A
lthou
gh s
ilico
n ha
s no
t bee
n sh
own
to c
ause
adv
erse
eff
ects
in h
uman
s, th
ere
is n
o ju
stifi
catio
n fo
r ad
ding
sili
con
to s
uppl
emen
tsd A
lthou
gh v
anad
ium
in f
ood
has
not b
een
show
n to
cau
se a
dver
se e
ffec
ts in
hum
ans,
ther
e is
no
just
ifica
tion
for
addi
ng v
anad
ium
to f
ood,
and
van
adiu
m s
uppl
emen
ts s
houl
d be
use
d w
ith c
autio
n. T
he U
L is
bas
ed o
n ad
vers
e ef
fect
s in
labo
rato
ry a
nim
als,
and
this
dat
a co
uld
be u
sed
to s
et a
UL
for
adu
lts b
ut n
ot c
hild
ren
and
adol
esce
nts
e ND
not
det
erm
inab
le d
ue to
lack
of d
ata
of a
dver
se e
ffec
ts in
this
age
gro
up a
nd c
once
rn w
ith re
gard
to la
ck o
f abi
lity
to h
andl
e ex
cess
am
ount
s. S
ourc
e of
inta
ke s
houl
d be
from
food
on
ly to
pre
vent
hig
h le
vels
of
inta
ke
Appendix G. Dietary Reference Intakes (DRIs)
355L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Appendix H. Maintenance Fluid Requirements
The HollidaySegar nomogram is a common method used in approximating water loss and calculating the fluid requirement [28].
Box 1: Fluid Requirement Calculation
1. 100 10mL kgfor the first kgof weight/ + 2. 50 10mL kgfor thesecond kgof weight/ + 3. 20 mL kgfor remaining kgof weight/ = 4. Total daily fluid requirement
Example: A child weighing 25 kg would require: 1. 100 10 1000mL first kg mL´ = + 2. 50 10 500mL second kg mL´ = + 3. 20 5 100mL remaining kg mL´ = = 4. Total fluid requirement of 1,600 mL/day
Fluid requirements are typically thought of on a 24h basis, while administration is based on an hourly infusion rate via the delivery pump. To approximate the hourly rate, the “421” formula can be used [29].
Box 2: Hourly Maintenance Fluid Infusion Calculation (Using 4-2-1 Formula)
1. 4 10mL kg h for the first kg/ / + 2. 2 10mL kg h for thesecond kg/ / + 3. 1 mL kg h for the remaining kg/ / = 4. Total hourly infusion rate
Example: For a 25kg child, the maintenance fluid rate would be: 1. 4 10 40mL kg h first kg mL h/ / /´ = + 2. 2 10 20mL kg h second kg mL h/ / /´ = + 3. 1 5 5mL kg h remaining kg mL h/ / /´ = = 4. Total hourly infusion mL h mL= =65 1560/
357L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Appendix I. Interpreting Quantitative Fatty Acid Profiles
Example fatty acid profileCompound Reference PatientC 8:0 8–47 43C10:1 1.8–5.0 7.8 HC10:0 2–18 70 HC12:1 1.4–6.6 6
C12:0 6–90 22
C14:2 0.8–5.0 6.8 HC14:1 3–64 30
C14:0 Myristic Acid 30–450 98
C16:2 10–48 18C16:1n-9 25–105 86C16:1n-7 110–1130 269
C16:0 Palmitic Acid 1480–3730 1426 L
C18:3n-6 16–150 18
C18:3n-3 Linolenic Acid 50–130 37 L
C18:2n-6 Linoleic Acid 2270–3850 1207 L
C18:1n-9 650–3500 872
C18:1n-7 280–740 207 L
C18:0 Stearic Acid 590–1170 648
C20:5n-3 Eicosapentaenoic acid (EPA)
14–100 31
C20:4n-6 Arachidonic Acid 520–1490 316 L
C20:3n-9 7–30 7C20:3n-6 50–250 43 L
C20:0 Arachidic acid 50–90 46 L
C22:6n-3 Docosahexaenoic acid (DHA) 50–250 29 L
C22:5n-6 10–70 13
C22:5n-3 20–210 38
C22:4n-6 10–80 11
C22:1 4–13 5
C22:0 0.0–96.3 36.5
C24:1n-9 60–100 82C24:0 0.0–91.4 38.8
C26:1 0.3–0.7 1
C26:0 0.00–1.30 0.78
C19:B 0.00–2.98 0.04C20:B 0.00–9.88 0.5
HOLMAN RATIO 0.010–0.038 0.022151899
358
Courtesy of Dr. Melanie Gillingham, PhD, RD Oregon Health & Science University, Portland, Oregon
Box 3: Nutrition Management Plan
• Increase n6 fatty acid intake to correct low linoleic and arachidonic acid concentrations.• Decrease saturated fatty acid intake in order to maintain low dietary fat intake.• Begin DHA supplements to correct low DHA concentrations.• Alphalinoleic acid is low but as it is primarily needed as a precursor to DHA, additional
alphalinoleic acid is not needed as long as DHA is supplemented in the diet
Compound Reference Patient Low
C18:2n-6Linoleic acid
2270–3850 1207 Yes
C20:4n-6Arachidonic Acid
520–1490 316 Yes
C22:5n-6 Docosapentaenoic acid n-6
10–70 13 No
Holman Ratio 0.010–0.038 0.022 No
1. Evaluate n-6 status:(a) Low linoleic acid(b) Low arachidonic acid(c) Normal Holman ratio
- The patient is consuming a low fat diet so the Holman ratio is normalbecause both n-6 and n-9 are low. The Holman ratio may or may not indicate an essential fatty acid deficiency inmetabolic patients.
Compound Reference Patient Low
C14:0Myristic acid
30–450 98 No
C16:0Palmitic acid
1480–3730 1426 Yes
C18:0Stearic acid
590–1170 648 No
C20:0Arachidic acid
50–90 46 Yes
2. Evaluate saturated fatty acids:(a) Low saturated fat acids
-The patient is consuming a low fat diet.
Compound Reference Patient Low
C18:3n-3Linolenic acid
50–130 37 Yes
C20:5n-3Eicopentaenoic acid (EPA)
14–100 31 No
C22:6n-3Docosahexaenoic acid (DHA)
30–250 29 Yes
ARA:DHA 2.1–4.6 10.8 -
3. Evaluate n-3 fatty acids:(a) Low linolenic acid(b) Low in DHA(c) ARA:DHA ratio is too high
(goal is less than 4)(d) Low C22:5n-6 is another indicator of n-3 deficiency.
Appendix I. Interpreting Quantitative Fatty Acid Profiles
359
I.1 Plasma Fatty Acids
• Free fatty acids are found in plasma in the ionized form. FFA are elevated with fasting and low with feeding.
• Most plasma fatty acids exist as esters in lipoproteins: – Triglycerides – Phospholipids
• Fatty acid profiles include both FFA and plasma fatty acids in lipoprotein.
• Plasma fatty acids are a shortterm marker of dietary intake.
• Red Blood Cell (RBC) fatty acids are a longterm marker of dietary intake.
• Adipose fatty acids reflect dietary intake over years.
• Plasma and RBC fatty acids are similar in people with repetitive diets such as patients with inherited metabolic diseases.
• Primary circulating fatty acids include: – Stearate – Palmitate – Oleic – Palmitoleic acid – Linoleic acid
• Arachidonic acid (C20:4n6) can fall with DHA supplements.
• With regard to the DRI for fatty acids, the Institute of Medicine states, “The linoleic acid: αlinolenic acid ratio is likely most important in diets that are very low or devoid of arachidonic acid” [30].
Shorthand Abbreviation Name
C10:0 – Capric acidC12:0 – Lauric acidC14:0 MA Myristic acidC16:0 PA Palmitic acidC16:1n7 PO Palmitoleic acidC16:1n7t tPO Trans palmitoleic acidC18:0 SA Stearic acidC18:1n9 OA Oleic acidC18:1n9t tOA Trans oleic acidC18:2n6 LA Linoleic acidC18:2n6t tLA Trans linoleic acidC20:0 – Arachidic acidC18:3n6 GLA Gamma linolenic acidC20:1n9 Eicosenoic acidC18:3n3 ALA Alpha linolenic acidC20:2n6 – Eicosadienoic acidC20:3n6 – Eicosatrienoic acidC22:0 – Docosanoic acidC20:4n6 AA Arachidonic acidC24:0 – Lignoceric acidC20:5n3 EPA Eicosapentaenoic acidC24:1n9 – Nervonic acidC22:4n6 DTA Docosatetraenoic acidC22:5n6 DPAn6 Docosapentaenoic acid n6C22:5n3 DPAn3 Docosapentaenoic acid n3C22:6n3 DHA Docosahexaenoic acid
Appendix I. Interpreting Quantitative Fatty Acid Profiles
361L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Appendix J. Glucose Polymer Protocol
J.1 Nutritional Approach During Illness
What is this about?As part of the management of your metabolic
condition, you have been advised to avoid prolonged fasting. This handout provides a practical, temporary approach to managing illness to avoid prolonged fasting during illness. Your specific situation should always be discussed with your metabolic dietitian.What happens during an illness?
Illness is often accompanied by decreased appetite, nausea, and vomiting which can result in decreased intake of food, hence energy. To compensate for this decreased intake and to provide energy to fight off the infection, the body mobilizes its reserves and breaks down some of its own substances such as proteins, fat, and glycogen to provide energy. This process is called catabolism. In patients with inborn errors of metabolism, the breakdown of some of these body substances is impaired, resulting in low blood sugar (hypoglycemia) or in the accumulation of intermediary products in blood, which can then result in complications.How can you counteract catabolism with nutrition?
During times of illness, catabolism can be counteracted by providing sufficient energy from nutrition. This is best done by consuming sugars
(carbohydrates) regularly. Sugars are easily digested and a readily available source of energy from nutrition. They are also well tolerated during illness.
Temporary management strategy requires intake of carbohydraterich drinks, preferably a glucose polymer at regular intervals during times of illness. The concentration, the volume, and the frequency of intake necessary to prevent catabolism are dependent on the weight and the age of the individual. With this handout we will provide you with information regarding ***your/your child’s specific needs. The glucose polymer solution does not provide complete nutrition and should only be used for a very short time (max. 1–2 days).What to do when there is diarrhea?
With diarrhea, a glucose polymer should be added to an appropriate rehydration solution. This will help prevent catabolism as well as dehydration due to loss of electrolytes.In conclusion:
With insufficient intake it is important to temporarily incorporate carbohydraterich drinks in the nutrition plan. Such intervention will help reduce or prevent the need for hospitalization. It is always necessary to inform your PCP, your metabolic dietitian, and your metabolic physi-cian during times of illness. They can provide further instructions.
362
J.2 Nutrition Protocol with Illness (e.g., Infection): Oral Treatment [31]
Age
Glucose polymera Dose Fluid requirement Energy requirement
(% solution) (ml/kg/h) (ml/kg/day) (Cal/kg/day)
0–6 months 15 7.7 183 1106–12 months 15 7.0 168 1001–3 years 20 4.5 110 903–6 years 25 3.3 80 806–12 years 25 2.6 65 65or 6–12 years 30 2.25 54 6512–15 years 30 1.8 42 50>15 years 30 1.6 38 45
aPolycal (Nutricia North America, Rockville, MD)Original source: Dorothy Francis – Metabolic Dietitian – Royal Children’s Hospital – AustraliaOne teaspoon = 5 mlOne tablespoon = 15 mlOne ounce = approximately 30 mlFour ounces =120 ml or approximately onehalf cupPolycal: A maltodextrin that contains the same number of calories per grams and with similar structure as a glucose polymerOne level teaspoon of Polycal = 2 g of Polycal = 8 calOne level tablespoon of Polycal = 6 g of Polycal = 23 cal15 15 100 8 4% ** / . /= =gCHO mL app tsp oz
20 20 100 11 4% / . /= =gCHO mL app tsp oz
25 25 100 4 412% / . /= =gCHO mL app tbsp. oz
30 30 100 5 412% / . /= =gCHO mL app tbsp. oz
Appendix J. Glucose Polymer Protocol
363L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Appendix K. calculation of Glucose Infusion Rate and cornstarch Dosing for Patients with Glycogen Storage Disease
The main priority for GSD type 1 is to prevent hypoglycemia and suppress lactic acidosis. This is achieved by calculating glucose requirements using the glucose infusion rate. Glucose infusion rate (GIR) is expressed as mg/kg/min. Glucose can be provided through formula feeding, nocturnal nasogastric drip feeding, or the use of uncooked cornstarch. Nasogastric drip feedings provide a continuous source of glucose, and cornstarch provides a source of
glucose that is slowly released and slowly absorbed.
Recommended GIR [32]
0–12 months 7–9 mg/kg/min1–3 years 7 mg/kg/min3–6 years 6–7 mg/kg/min6–14 years 5–6 mg/kg/minAdolescents 4–5 mg/kg/minAdults 3–4 mg/kg/min
Uncooked cornstarch 1 tbsp = 8 g = 7.2 g carbohydrate (CHO)
K.1 Example GIR calculations
Example 1Patient weight: 22 kg
Patient age: 5 yearsCurrent cornstarch dose: 36 g at 6:00, 10:00, 14:00 and 18:00
Step 1. 7 2
80 9 1
..
gCHO
gcornstarchgCHOper gcornstarch=
Step 2. 36 0 9 32 4gcornstarch gCHO gCHO´ =. .
Step 3. 32 4 1 000 32 400. , ,gCHO mg mgCHO´ =
Step 4. 32 400
221 472 7
,, .
mgCHO
kgmgCHOper kg=
Step 5. 4 60 240h per hour´ =min min
Step 6. 1 472 7
240
, .
min. / /
mgCHOper kg = 6 13 kgmg min
364
Example 2You have a 12yearold patient weighing 43 kg and is experiencing low blood sugar with his current cornstarch dosing regimen. He currently takes 48 g of cornstarch every 4 h starting at 10 am. Calculate the current GIR and the cornstarch dose that is appropriate for a correct GIR.
Current Dose
Step 1. 7 2
80 9
..
gCHO
gcornstarchgCHOper gcornstarch=
Step 2. 48 0 9 43 2gcornstarch gCHOper gcornstarch gCHO´ =. .
Step 3. 43 2 1 000 43 200. , / ,gCHO mg g mgCHO´ =
Step 4. 43 200
431 004 6
,, . /
mgCHO
kgmgCHO kg=
Step 5. 4 60 240h h´ =min/ min
Step 6. 1 004 6
240
, . /
min. / /
mgCHO kg = 4 18 mg kg min
New DoseStep 1. 5.5 mg/kg/min(this GIR is provided to you by the metabolic physician, the recommended GIR for 6–14yearolds is
5–6 mg/kg/min)
Step 2. 5 5 240 1 320. / / min min , /mgCHO kg mgCHO kg´ =
Step 3. 1 320 43 56 760, / ,mgCHO kg kg mgCHO´ =
Step 4. 56 760 1 000 56 76, , .mgCHO mg gCHO¸ =
Step 5. 56 76 0 9 1. .gCHO gCHOper gcornstarch¸ = 63 gcornstarch
Appendix K. Calculation of Glucose Infusion Rate and Cornstarch Dosing for Patients
365L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
Appendix L. Guide to counting carbohydrate for Patients with Glycogen Storage Disease
366
Food
Serv
ing
Wt i
n gr
ams
CH
O in
gr
ams
Gra
ms
CH
O/g
fo
od
Gra
ms
food
for
1
g C
HO
Gra
ms
food
for
2
g C
HO
Gra
ms
food
for
5
g C
HO
Gra
ms
food
for
7
g C
HO
Gra
ms
food
for
10
g C
HO
Gra
ms
food
for
15
g C
HO
Gra
ms
food
for
20
g C
HO
Alm
onds
dry
roa
sted
286.
90.
24
820
2841
6181
Bac
on B
its I
mita
tion
257.
20.
33
717
2435
5270
Bak
ed B
eans
253
50.6
0.2
510
2535
5075
100
Ban
ana
114
26.7
0.2
49
2130
4364
85C
ashe
ws
dry
roas
ted
289.
30.
33
615
2130
4560
Chi
cken
Mc
Nug
gets
113
16.5
0.1
714
3448
6810
313
7C
hick
en P
opco
rn C
hick
en (
KFC
)1
smal
l ord
er99
21.0
0.2
59
2433
4771
94C
orn
cann
ed1/
2 cu
p82
15.2
0.2
511
2738
5481
108
Cor
n C
hips
1 oz
2816
.60.
62
38
1217
2534
Cor
n Sy
rup
– da
rk20
15.3
0.8
13
79
1320
26C
orn
Syru
p –
light
2015
.30.
81
37
913
2026
Cra
cker
s C
hick
en in
a B
iski
t14
eac
h30
17.0
0.6
24
912
1827
35C
rack
ers
Parm
esan
Che
eze
its25
eac
h30
19.0
0.6
23
811
1624
32C
rack
ers
Parm
esan
Gol
dfish
55 e
ach
3019
.00.
62
38
1116
2432
Cra
cker
s T
risc
uit
7 ea
ch31
21.0
0.7
13
710
1522
30C
rack
ers
Whe
at T
hin
16 e
ach
2919
.10.
72
38
1115
2330
Dill
Pic
kle
Spea
rs65
2.7
0.0
2448
120
169
241
361
481
Dre
ssin
g K
raft
But
term
ilk R
anch
1 T
bsp
150.
50.
030
6015
021
030
045
060
0Fl
our
All
Purp
ose
Whi
te12
595
.40.
81
37
913
2026
Fren
ch F
ries
– R
esta
uran
t50
20.0
0.4
35
1318
2538
50Fr
ench
Fri
es
Froz
en85
22.5
0.3
48
1926
3857
76Fu
nYun
s25
15.9
0.6
23
811
1624
32G
reen
Bea
ns
boile
d62
4.9
0.1
1325
6389
127
190
253
Gre
en B
eans
ca
nned
683.
10.
022
4411
015
421
932
943
9M
acar
oni –
Coo
ked
140
39.7
0.3
47
1825
3553
71O
lives
Bla
ck25
1.6
0.1
1632
8011
216
024
032
0O
lives
Gre
en46
0.5
0.0
9218
446
064
492
013
8018
40Pe
anut
sdr
y ro
aste
d28
6.0
0.2
59
2333
4770
93Po
tato
Boi
led
135
27.0
0.2
510
2535
5075
100
Pret
zels
– R
old
Gol
d28
15.1
0.5
24
913
1928
37R
ice
Dre
am F
roze
n D
esse
rt92
23.0
0.3
48
2028
4060
80
Appendix L. Guide to Counting Carbohydrate for Patients with Glycogen Storage Disease
367
Food
Serv
ing
Wt i
n gr
ams
CH
O in
gr
ams
Gra
ms
CH
O/g
fo
od
Gra
ms
food
for
1
g C
HO
Gra
ms
food
for
2
g C
HO
Gra
ms
food
for
5
g C
HO
Gra
ms
food
for
7
g C
HO
Gra
ms
food
for
10
g C
HO
Gra
ms
food
for
15
g C
HO
Gra
ms
food
for
20
g C
HO
Ric
ea
Ron
i Fri
ed R
ice
1/2
cup
3525
.00.
71
37
1014
2128
Ric
ea
Ron
i Ric
e Pi
laf
1/2
cup
3526
.00.
71
37
913
2027
Smar
ties
2825
.00.
91
26
811
1722
Stra
wbe
rrie
s14
910
.50.
114
2871
9914
221
328
4To
rtill
a C
hips
San
titas
10 c
hips
2820
.00.
71
37
1014
2128
Waf
fles
Egg
os B
utte
rmilk
1 ea
ch39
15.5
0.4
35
1318
2538
50
Food
Gra
ms
food
fo
r 1
g C
HO
Gra
ms
food
fo
r 2
g C
HO
Gra
ms
food
fo
r 5
g C
HO
Gra
ms
food
fo
r 7
g C
HO
Gra
ms
food
fo
r 10
g C
HO
Gra
ms
food
fo
r 15
g C
HO
Gra
ms
food
fo
r 20
g C
HO
Alm
onds
– d
ry r
oast
ed4
820
2841
6181
Bac
on b
its im
itatio
n3
717
2435
5270
Bak
ed b
eans
510
2535
5075
100
Ban
ana
49
2130
4364
85C
ashe
ws
– dr
y ro
aste
d3
615
2130
4560
Chi
cken
McN
ugge
ts7
1434
4868
103
137
Chi
cken
pop
corn
chi
cken
(K
FC)
59
2433
4771
94C
orn
cann
ed5
1127
3854
8110
8C
orn
chip
s2
38
1217
2534
Cor
n sy
rup
– da
rk1
37
913
2026
Cor
n sy
rup
– lig
ht1
37
913
2026
Cra
cker
s –
Chi
cken
in a
Bis
kit
24
912
1827
35C
rack
ers
– pa
rmes
an C
heez
Its
23
811
1624
32C
rack
ers
– pa
rmes
an G
oldfi
sh2
38
1116
2432
Cra
cker
s –
Tri
scui
t1
37
1015
2230
Cra
cker
s –
Whe
at T
hins
23
811
1523
30D
ill p
ickl
e sp
ears
2448
120
169
241
361
481
Dre
ssin
g –
Kra
ft B
utte
rmilk
Ran
ch30
6015
021
030
045
060
0Fl
our
all p
urpo
se w
hite
13
79
1320
26Fr
ench
fri
es –
res
taur
ant
35
1318
2538
50
(con
tinue
d)
Appendix L. Guide to Counting Carbohydrate for Patients with Glycogen Storage Disease
368
Food
Gra
ms
food
fo
r 1
g C
HO
Gra
ms
food
fo
r 2
g C
HO
Gra
ms
food
fo
r 5
g C
HO
Gra
ms
food
fo
r 7
g C
HO
Gra
ms
food
fo
r 10
g C
HO
Gra
ms
food
fo
r 15
g C
HO
Gra
ms
food
fo
r 20
g C
HO
Fren
ch f
ries
– f
roze
n4
819
2638
5776
Funy
uns
23
811
1624
32G
reen
bea
ns –
boi
led
1325
6389
127
190
253
Gre
en b
eans
– c
anne
d22
4411
015
421
932
943
9M
acar
oni –
coo
ked
47
1825
3553
71O
lives
– b
lack
1632
8011
216
024
032
0O
lives
– g
reen
9218
446
064
492
01,
380
1,84
0Pe
anut
s –
dry
roas
ted
59
2333
4770
93Po
tato
boi
led
510
2535
5075
100
Pret
zels
– R
old
Gol
d2
49
1319
2837
Ric
e D
ream
fro
zen
dess
ert
48
2028
4060
80R
ice
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ried
ric
e1
37
1014
2128
Ric
ea
Ron
i ric
e pi
laf
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79
1320
27Sm
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26
811
1722
Stra
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rrie
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2871
9914
221
328
4To
rtill
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ips
– Sa
ntita
s1
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1014
2128
Waf
fles
Egg
os b
utte
rmilk
35
1318
2538
50
Appendix L. Guide to Counting Carbohydrate for Patients with Glycogen Storage Disease
369
References
Studies Describing Protein or Energy Intakes
1. Acosta PB, Yannicelli S. Protein intake affects phenylalanine requirements and growth of infants with phenylketonuria. Acta Paediatr Suppl. 1994;407: 66–7.
2. Schaefer F et al. Growth and skeletal maturation in children with phenylketonuria. Acta Paediatr. 1994; 83(5):534–41.
3. Thomas E. A study of the response to protein modified diets for propionic acidemia in twelve patients. Brain Dev. 1994;16(Suppl):58–63.
4. Schulz B, Bremer HJ. Nutrient intake and food consumption of adolescents and young adults with phenylketonuria. Acta Paediatr. 1995;84(7):743–8.
5. MacDonald A et al. Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch Dis Child. 1996;74(5):412–7.
6. Krauch G et al. Comparison of the protein quality of dietetically treated phenylketonuria patients with the recommendations of the WHO Expert Consultation. Eur J Pediatr. 1996;155 Suppl 1:S153–7.
7. Acosta PB et al. Nutrient intake and growth of infants with phenylketonuria undergoing therapy. J Pediatr Gastroenterol Nutr. 1998;27(3):287–91.
8. Thomas JA et al. Apparent decreased energy requirements in children with organic acidemias: preliminary observations. J Am Diet Assoc. 2000;100(9):1074–6.
9. Arnold GL et al. Protein insufficiency and linear growth restriction in phenylketonuria. J Pediatr. 2002;141(2):243–6.
10. Yannicelli S et al. Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab. 2003;80(1–2):181–8.
11. Gillingham MB et al. Optimal dietary therapy of long chain 3hydroxyacylCoA dehydrogenase deficiency. Mol Genet Metab. 2003;79(2):114–23.
12. Dobbelaere D et al. Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J Inherit Metab Dis. 2003;26(1): 1–11.
13. Macdonald A et al. Protein substitutes for PKU: what’s new? J Inherit Metab Dis. 2004;27(3): 363–71.
14. Hoeksma M et al. The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. J Inherit Metab Dis. 2005;28(6):845–54.
15. Acosta PB et al. Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect. Mol Genet Metab. 2005;86(4): 448–55.
16. Touati G et al. Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J Inherit Metab Dis. 2006;29(2–3):288–98.
17. Nagasaka H et al. Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with lateonset ornithine transcarbamylase deficiency. Eur J Pediatr. 2006;165(9):618–24.
18. Huemer M et al. Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. J Inherit Metab Dis. 2007;30(5):694–9.
19. Singh RH. Nutritional management of patients with urea cycle disorders. J Inherit Metab Dis. 2007;30(6): 880–7.
20. Ahring K et al. Dietary management practices in phenylketonuria across European centres. Clin Nutr. 2009;28(3):231–6.
21. Hauser NS et al. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. Am J Clin Nutr. 2011;93(1):47–56.
22. Rocha JC et al. Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Mol Genet Metab. 2012;107(4):659–63.
23. GokmenOzel H et al. Dietary practices in glutaric aciduria type 1 over 16 years. J Hum Nutr Diet. 2012;25(6):514–9.
24. Adam S et al. Dietary management of urea cycle disorders: UK practice. J Hum Nutr Diet. 2012;25(4): 398–404.
25. Adam S et al. Dietary practices in pyridoxine non responsive homocystinuria: a European survey. Mol Genet Metab. 2013;110(4):454–9.
26. Boy N et al. Low lysine diet in glutaric aciduria type I—effect on anthropometric and biochemical follow up parameters. J Inherit Metab Dis. 2013;36(3): 525–33.
27. AldámizEchevarría L et al. Tetrahydrobiopterin therapy vs. phenylalaninerestricted diet: impact on growth in PKU. Mol Genet Metab. 2013;109(4):331–8.
Maintenance Fluid Requirements
28. Holliday MA, Segar WE. The maintenance need for water in parenteral fluid therapy. Pediatrics. 1957; 19(5):823–32.
29. Kalia A. Maintenance fluid therapy in children. Fluids & Electrolytes 2008 [cited 8 Oct 2014]. Available from: http://www.utmb.edu/pedi_ed/CORE/Fluids& Electyrolytes/page_04.htm.
Interpreting Quantitative Fatty Acid Profiles
30. Institute of Medicine (U.S.), Panel on Macronutrients. and Institute of Medicine (U.S.), Standing Committee on the Scientific Evaluation of Dietary Reference Intakes. Dietary reference intakes for energy, carbohydrate, fiber, fat, fatty acids, cholesterol, protein, and amino acids. Washington, DC: National Academies Press; 2005. xxv, 1331 p.
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Glucose Polymer Protocol
31. Van Hove J, Myers S, Vande Kerckove K, Freehauf C, Bernstein L. Acute nutrition management in the prevention of metabolic illness: a practical approach with glucose polymers. Mol Gen and Met. 2009;97:1–3.
calculation of Glucose Infusion Rate and cornstarch Dosing for Patients with Glycogen Storage Disease
32. Fernandes J, Saudubray JM, van den Berghe G. Inborn metabolic diseases: diagnosis and treatment. 3rd ed.
Berlin: Springer; 2000.
Appendix L. Guide to Counting Carbohydrate for Patients with Glycogen Storage Disease
371L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, DOI 10.1007/978-3-319-14621-8,© Springer International Publishing Switzerland 2015
A Acute nutrition management
glutaric acidemia type 1 , 215–216 long-chain fatty acid oxidation disorders , 277–278 maple syrup urine disease
intercurrent illness , 177 protein anabolism , 177 sick-day diets , 177–178
medium-chain acyl-CoA dehydrogenase defi ciency , 277–278
methylmalonic acidemia , 226–227 propionic acidemia , 226–227 urea cycle disorders
hospitalization , 165 intercurrent illness , 165–166
Acylcarnitine profi le , 81, 335 Alpha-dextrin maltose solution , 60 Alpha-tocopherol defi ciency , 266 Altered neurochemistry , 27, 28 Amino acid
analysis , 81–82 classifi cation , 64 disorders , 17, 18, 320–323 solutions , 327
Ammonia inherited metabolic diseases , 77–78 urea cycle disorders , 160–161
Ammonul ® , 164 Anabolism
acute episodes and hospitalization , 61 description , 59 fasting and postprandial metabolism , 60
Anion gap acidosis , 77 Anticipatory guidance , 27 Arginine , 214 Attention defi cit-hyperactivity disorder (ADHD) , 135 Autosomal dominant and autosomal recessive
inheritance , 12 Axial hypotonia , 204
B Bacterial inhibition assay , 16 Betaine , 155
Biliary dysfunction , 37 Biochemical test, inborn errors of metabolism , 52 Blood-brain barrier , 118 Brain imaging , 204 Branching enzyme defi ciency , 304 Buphenyl ® , 164
C Carbaglu ® , 164 Carbohydrate metabolism disorders , 38 Cardiomyopathy
dilated , 40 fatty acid oxidation defects , 245 hypertrophic , 40–41 organic acidemias, pathogenesis , 192
Carnitine , 80–81, 272 Carnitine cycle , 242, 243 Catabolic stress , 163–164 Cell proteins , 4 Central nervous system (CNS)
homocystinuria , 152 hyperammonemia , 78
Chaperones , 4 Chorioretinopathy , 260, 261 Chronic liver damage , 37 Chronic moniliasis , 192 Chronic nutrition management
glutaric acidemia type 1 arginine , 214 asymptomatic infant , 213 glutaryl-CoA dehydrogenase , 215 l -carnitine supplementation , 215 medical foods comparison , 213, 214 nutrient intake , 212–213
glycogen storage disease type 1 alternative and adjunct treatments , 313 cornstarch therapy , 310, 311 diet after infancy , 311–313 diet in infancy , 309–310
long-chain fatty acid oxidation disorders , 272–273 maple syrup urine disease
daily nutrient intakes , 175 diet prescription , 175, 176
Index
372
Chronic nutrition management ( cont .) leucine intake , 176 medical food , 176–177
phenylketonuria breast milk , 105 diet prescription , 105 medical foods , 107, 108 phenylalanine concentration , 103–104 tetrahydrobiopterin , 103
urea cycle disorders amino acids supplementation , 164 asymptomatic infant , 162, 163 catabolic stress , 163–164 components of , 162 medical foods energy and protein content , 162–163 nitrogen-scavenging drugs , 164 principles of , 162
Cornstarch dosing , 361–362 therapy , 310–311
Cystathionine-β-synthase (CBS) , 150 Cysteine , 154 Cystinuria , 41
D Debranching enzyme defi ciency , 304 Delayed newborn screening , 20 Deletion mutations , 7–8 Dextrose solutions , 327 Diaper test , 16 Diarrhea , 359 Dietary and de novo protein synthesis , 64–65 Dietary reference intake (DRI)
average requirements , 342–343 elements , 346–347, 352–353 galactosemia , 291 macronutrient distribution range , 349 vitamins , 344–345, 350–351 water and macronutrients , 348
Diet, long-chain fatty acid oxidation disorders after infancy , 275 calculations , 279–281 for exercise , 276 modifi cations , 274–275
Dilated cardiomyopathy , 40 Docosahexaenoic acid (DHA) defi ciency , 266 Dystonia , 204
E Eat Right Stay Bright™ anticipatory guidance
tool , 27, 28 Ectopia lentis , 150 Educational resources , IMD, 325 Enzymatic assays, newborn screening , 16 Essential fatty acid (EFA) defi ciency , 265–267 Exercise
diet for , 276 GSD type 1 , 313 MCT and , 262–264
F Fasting
glycogen storage diseases , 297 long-chain fatty acid oxidation
disorders , 273–274 postprandial metabolism , 60 reduced tolerance disorders , 48
Fat-soluble vitamins , 266 Fatty acid β-oxidation , 242, 244 Fatty acid oxidation disorders. See also Long-chain fatty
acid oxidation disorders (LCFAOD) biochemistry
carnitine cycle , 242, 243 fatty acid β-oxidation , 242, 244 ketogenesis and ketone utilization , 244 ketone metabolism , 244–245
description , 241–242 diagnostic testing , 245–246 ketogenesis , 251 ketolysis , 252 LCHAD defi ciency
biochemistry and symptoms , 250–251 diagnosis , 251 treatment , 251
MCAD defi ciency , 246–248 symptoms of , 245 tandem mass spectrometry , 17, 18 VLCAD defi ciency
biochemistry and symptoms , 248–249 diagnosis , 249 treatment , 249–250
Fatty acid profi les , 357–358 Fibrosis/cirrhosis , 37 Flinders model , 32 Fluid requirement maintenance , 355 Free fatty acids , 358
G Galactosemia
clinical manifestations , 286 description , 285 metabolic pathway , 286 monitoring , 289–291 nutrition management
allowed and restricted foods and ingredients , 289, 291
bound and free galactose , 288 dietary reference intakes , 291 dietary restriction , 288, 289 endogenous production , 288, 290 infant formulas , 287 isofl avones , 287 metabolic dietitians survey , 288, 290
Galactose-1-phosphate uridyltransferase (GALT) , 286
Genetics cell proteins , 4 deletion mutation , 7–8 genotype and phenotype , 11–12 insertion mutation , 6–7
Index
373
molecular (DNA) testing , 9–11 mutation
effect , 8–9 nomenclature , 9
single-gene inheritance , 12–13 substitution mutation , 6, 7
Gluconeogenesis , 296, 299–300 Glucose infusion rate (GIR) , 361–362 Glucose polymer guidelines , 60 Glucose polymer protocol , 359–360 Glutaric acidemia type 1 (GA-1)
acute encephalopathic crisis , 207, 208 acute nutrition management , 215–216 description , 203 diagnosis , 205–206 diet calculation , 218–219 genetics and biochemistry , 204–205 glutaric acid and 3-hydroxyglutaric acid
concentrations , 206 incidence of , 204 management of , 211–212 metabolic pathway , 211, 212 monitoring plasma amino acids , 216–217 newborn screening , 206 phenotype , 204, 207 plasma/urine, elevations , 206, 207 treatment , 208
Glutaryl-CoA dehydrogenase (GCD) , 215 Glycogenolysis , 296 Glycogenolytic disorders , 303 Glycogen storage disease
branching enzyme defi ciency , 304 carbohydrate count , 363–366 clinical presentation , 299 debranching enzyme defi ciency , 304 fasting tests , 297 free fatty acids and ketone production , 297, 298 gluconeogenesis , 296, 299 glucose homeostasis , 297 glucose infusion rate , 361–362 glycogenolytic disorders , 303 glycogenoses , 300 glycogen synthesis , 296 hepatic glycogenoses ( see Hepatic
glycogenoses) inherited metabolic disease , 40, 79 metabolic pathway , 299
Glycogen storage diseases types VI and IX. See Glycogenolytic disorders
Glycogen storage disease (GSD) type 1 adult patient monitoring , 303 biochemical and clinical features , 308–309 chronic nutrition management
alternative and adjunct treatments , 313 cornstarch therapy , 310, 311 diet after infancy , 311–313 diet in infancy , 309
complications , 302–303 diagnosis , 301 diet calculation , 316 exercise , 313
glucose concentrations maintenance , 302 illness , 313 metabolic pathway , 299, 308 monitoring , 314–315 nutritional management , 301 pregnancy , 314 surgery , 313–314 transplantation , 315
Glycogen storage disease type III. See Debranching enzyme defi ciency
Glycogen storage disease type IV. See Branching enzyme defi ciency
Glycogen synthesis , 296 Glycomacropeptide (GMP) , 64 Glycosade , 313 Gray matter pathology , 97
H Health literacy , 26 Hepatic glycogenoses , 300–303 Hepatocyte insuffi ciency/dysfunction , 37 Hepatocyte lysis , 37 Hepatomegaly , 37 Holliday-Segar nomogram , 355 Homocystinuria
betaine , 155 biochemical pathway , 150, 151 B 6 -nonresponsive , 155 clinical presentation
central nervous system , 152 eyes , 150 skeletal system , 151–152 vascular system , 152
description , 150 diagnosis , 153, 154 incidence , 149 natural history study , 152–153 nutrition monitoring , 156 outcome , 156–157 pathophysiology , 153–154 time to event curves , 152–153
Hospitalization acute episodes , 61 acute nutrition management, UCD , 165
Hydrolysate formula, protein in , 64 Hydrophobic amino acids , 4 Hydroxyacylcarnitines and retinal
function , 260–261 Hyperammonemia
inherited metabolic diseases , 77–78 metabolic intoxication syndrome , 55 organic acidemias, etiology , 192
Hyperphenylalaninemia , 27, 28
I Illness
glycogen storage disease type 1 , 313 nutritional approach during , 359 oral treatment , 360
Index
374
Inborn errors of metabolism (IEM) characteristic odor in patients with , 51 fasting, reduced tolerance , 48 intoxication disorders , 48 mitochondrial energy metabolism , 48 in neonates , 49–51
biochemical diagnostics , 51–53 treatment , 54–56
neurotransmission , 48 therapeutic options in acute illness , 49
Indicator amino acid oxidation technique , 66 Indispensable amino acids , 64 Insertion mutations , 6–7 Isofl avones , 287 Isovaleric acidemia (IVA) , 189, 190
K Ketogenesis , 79, 244, 251 Ketolysis , 252 Ketone metabolism , 244–245 Ketone utilization , 244
L Laboratory evaluation
confi rmatory testing , 83–84 metabolic laboratories
acylcarnitine profi le , 81 amino acid analysis , 81–82 carnitine profi le , 80–81 interpretation , 83 organic acid profi le , 82–83
routine laboratories acidosis , 76–77 ammonia , 77–78 glucose and ketones , 78–79 lactate , 79–80
Lactate plasma , 79 and pyruvate production , 264
Lactic acidemia , 80 Large neutral amino acids (LNAA)
applications , 121 composition , 118 diet monitoring , 123 diet plan , 121–123 supplementation , 123 therapy , 118, 119
l-carnitine supplementation , 215 Lipid emulsion , 327 Lipolysis , 297 Long-chain fatty acid oxidation disorders (LCFAOD)
acute nutrition management , 277–278 chronic nutrition management , 272–273 description , 255–256 DHA supplementation , 275–276 diet
after infancy , 275 calculations , 279–281
for exercise , 276 modifi cations , 274–275
essential fatty acids , 265–268 fasting , 273–274 fat-soluble vitamins , 266 high-protein diet , 259–260 LCHAD retinopathy , 260–262 MCT and exercise ( see Medium-chain triglycerides
(MCT)) nutrition management plan , 268–269 pathophysiology of , 271–272 patients monitoring , 276–277 plasma acylcarnitine analysis , 272 total energy estimation
body composition and lipid deposition , 256, 257 energy expenditure and substrate
oxidation , 256, 258 normal population vs. FAOD patients , 256, 259 obese children, calculation , 258–259
treating illness , 273 Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase
(LCHAD) defi ciency biochemistry and symptoms , 250–251 chorioretinopathy , 260, 261 diagnosis , 251 fatty acid oxidation disorders , 39 hydroxyacylcarnitines and retinal function , 260–261 hydroxyacylcarnitines vs. TFP , 262, 263 LCFA vs. MCT , 260, 262 TFP defi ciency , 260–262 treatment , 251
Lysine metabolism , 205 Lysinuric protein intolerance (LPI) , 41
M Maple syrup urine disease (MSUD) , 5, 39
acute nutrition management intercurrent illness , 177 protein anabolism , 177 sick-day diets , 177–178
blood BCAA concentrations , 179 case study , 233–234 chronic nutrition management
daily nutrient intakes , 175 diet prescription , 175, 176 leucine intake , 176 medical food , 176–177
diet calculation , 181–183 leucine concentrations evaluation , 179–180 metabolic pathway , 173–174 pregnancy , 230 transplantation , 180
Maternal phenylketonuria (MPKU) description , 139 diet calculation, pregnant woman , 146 monitoring , 145 nutrition management
energy , 143 fat and essential fatty acids , 143
Index
375
lactation and postpartum period , 144 phenylalanine and tyrosine , 141–142 protein , 142 sapropterin dihydrochloride , 144 vitamins and minerals , 143–144
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) defi ciency , 17
acute nutrition management , 277–278 chronic management , 277 clinical symptoms , 247 treatment , 247–248
Medium-chain triglycerides (MCT) GSD type 1 , 313 ketone production , 264 lactate and pyruvate production , 264 LCFAOD , 274–275 lowers heart rate , 264, 265
Melatonin , 123 Mendelian inheritance , 11–13 Metabolic intoxication syndrome, in newborn , 49–51.
See also Inborn errors of metabolism (IEM) biochemical diagnostics , 51–53 clinical presentation , 51 treatment
acid-based balance , 55 anabolism , 55–56 cessation of feedings , 54 detoxifi cation , 55 glucose administration , 54–55 hydration , 55 L-carnitine , 56
Metabolic toxins , 50 Methylmalonic acidemia (MMA) , 37, 38, 188, 189
acute nutrition management , 226–227 adjunct treatments , 225 amino acid profi les , 225 asymptomatic infant , 223, 224 chronic management , 223–224 laboratory monitoring , 225–226 medical foods , 223, 225 metabolic pathway , 221–222 nutrition status monitoring , 226 patient’s growth patterns , 225 pregnancy , 230 sick-day protocol , 226, 227 transplantation , 227–228
Microcephaly , 49 Missense mutation , 6, 7 Mitochondrial diseases , 42–43 Molecular testing approach , 9–11 Morbidity, organic acidemias , 196–197 Motivational interviewing model , 32 Muscle hypotonia , 49 Myelin-dopamine theory , 94
N Neurologic complications, organic acidemias , 191 Neuronal ceroid lipofuscinoses (NCL) , 44 Newborn screening (NBS)
bacterial inhibition assay , 16 criteria , 17 diaper test , 16 glutaric acidemia type 1 , 206 limitations , 20–21 process , 19 standardization , 17–19 tandem mass spectrometry , 17, 18 terminologies , 19 urea cycle disorders , 161–162
Next-generation sequencing (NGS) , 10 Non-anion gap acidosis , 76 Non-ketotic hyperglycinemia (NKH) , 43 Nonsense mutation , 6, 7 Nutrition care process
assessment , 337 diagnosis , 337–338 intervention , 338–339 monitoring and evaluation , 339–340
Nutrition education anticipatory guidance , 27 education tools , 27–31 patient education , 26 Radical Health™ , 32–33 theoretical models of self-management , 32
O Organic acid disorders , 17, 18 Organic acidemias (OA)
clinical presentation chronic late-onset form , 190 complications , 191–192 laboratory studies and diagnosis , 190–191 severe neonatal-onset form , 189–190
isovaleric acidemia , 189, 190 management
carnitine supplementation , 193 intercurrent illnesses , 194–195 N-carbamylglutamate supplementation , 194 propionate production , 194 vitamin B 12 responsiveness , 193–194
methylmalonic acidemia , 188, 189 morbidity , 196–197 outcome and prognosis , 197 pathophysiology , 192–193 patients monitoring , 195–196 propionic acidemia , 188–189 protein intake , 69
Organic acid profi le , 82–83 Ornithine transcarbamylase defi ciency (OTCD) , 84
P Parenteral fl uids , 327 Parenteral nutrition (PN) , 164 Pathophysiology
brain , 42–44 homocystinuria , 153–154 kidney , 41–42
Index
376
Pathophysiology ( cont .) liver , 36–39 long-chain fatty acid oxidation disorders , 271–272 muscle , 39–41 organic acidemias , 192–193
Phenocopy , 11 Phenylalanine
biochemistry , 90–91 neurotoxicity , 92–94 ( see also Phenylketonuria
(PKU)) tyrosine conversion , 102
Phenylalanine hydroxylase (PAH) , 4–6 Phenylketonuria (PKU) , 5
acute management , 109 characterization , 89 chronic nutrition management
breast milk , 105 diet prescription , 105–106 medical foods , 107, 108 phenylalanine concentration , 103–104 tetrahydrobiopterin , 103
clinical presentation , 91–92 diagnosis , 91 diaper test , 16 dietary treatment , 92 diet calculation
breast milk , 113–115 standard infant formula , 111–113
genetics , 91 global incidence , 91 iLearn interactive practice calculation , 111 LNAA dietary treatment , 122 nutritional monitoring , 109–110 pathogenesis , 92 pathology
gray matter , 97 white matter , 94–97
protein intake , 67, 68 sapropterin
administration , 132–133 children , 133–134 clinical studies leading to treatment , 128–132 impact on neurocognition , 135 long-term experience , 136–137
symptoms , 92 Plasma fatty acids , 358 Pregnancy
GSD type 1 , 314 maple syrup urine disease , 230 methylmalonic acidemia , 230 nutrition management
anticipate postpartum catabolism , 232–233 energy and protein requirements , 231, 232 intercurrent illness and complications , 232 obstetric clinic specializing , 232 plasma amino acid concentrations , 231–232 weight gain , 231
propionic acidemia , 230 urea cycle disorders , 230–231
Propionic acidemia (PROP) , 188–189 acute nutrition management , 226–227 adjunct treatments , 225 amino acid profi les , 225 asymptomatic infant , 223, 224 case study , 234–235 chronic management , 223–224 laboratory monitoring , 225–226 medical foods , 223, 225 metabolic pathway , 221–222 nutrition status monitoring , 226 patient’s growth patterns , 225 pregnancy , 230 sick-day protocol , 226, 227 transplantation , 227–228
Protein and energy intake studies , 329–334 Proteins , 64
biological value and digestibility , 64 requirements
general population , 66–67 patients with metabolic disorders , 67–69
turnover , 64–65 utilization , 65–66
Pyridoxine , 150 Pyruvate dehydrogenase complex (PDHC)
defi ciency , 48
R Radical Health™ , 32–33 Red blood cell (RBC) fatty acids , 358 Remethylation cycle , 150, 151 Renal Fanconi syndrome , 41 Renal tubular acidosis (RTA) , 191–192 Rhabdomyolysis , 40 Routine laboratory and inherited metabolic diseases
acidosis , 76–77 ammonia , 77–78 glucose and ketones , 78–79 lactate , 79–80
S Sapropterin dihydrochloride, pregnancy , 144 Silent mutations , 6, 7 Single-gene inheritance , 11–13 Skeletal system , 151–152 Stanford model , 32
T Tandem mass spectrometry, NBS , 17, 18 Tetrahydrobiopterin (BH 4 )
impact on neurocognition , 135 PKU patients
children , 133–134 phase II studies and phase III studies , 128, 130 phenylalanine intake , 130–132 PKU001 study , 129
Index
377
PKU006 study , 129 PKU008 study , 129, 132
synthesis and recirculation , 128 Three-nucleotide genetic coding system , 4 Transient hyperammonemia of newborn (THAN) , 78 Transplantation
GSD type 1 , 315 maple syrup urine disease , 180 methylmalonic acidemia , 227–228 propionic acidemia , 227–228 urea cycle disorders , 166–167
Transsulfuration , 150, 151 Trifunctional protein (TFP) defi ciency , 260–262 Tryptophan metabolism , 205
U Urea cycle disorders (UCD) , 38, 39
acute nutrition management hospitalization , 165 intercurrent illness , 165–166
ammonia concentrations , 160, 161 associated enzymes and altered laboratory
values , 160–161 chronic nutrition management
amino acids supplementation , 164 asymptomatic infant , 162, 163 catabolic stress , 163–164 components of , 162 medical foods energy and protein
content , 162–163
nitrogen-scavenging drugs , 164 principles of , 162
diet calculation , 168–169 metabolic pathway , 159–160 newborn screening , 161–162 nutrition monitoring , 166 outcomes , 162 pregnancy , 230–231 protein intake , 69 tandem mass spectrometry , 17, 18 transplantation , 166–167
V Vascular system , 152 Very long-chain acyl-coenzyme A dehydrogenase
(VLCAD) defi ciency biochemistry and symptoms , 248–249 diagnosis , 249 treatment , 249–250
Von Gierke disease. See Glycogen storage disease (GSD) type 1
W White matter pathology , 94–97
X X-linked recessive inheritance , 13
Index
