Biochemistry Word Association

7/28/2019 Biochemistry Word Association

1/12

BIOCHEMISTRY WORD ASSOCIATION

Leafy Vegetables Vitamin A

Pyridoxine B6

Niacin B3

Pantothenate B5

Vitamin K

dependent factors

II, VII, IX, X, protein

C and SProtein

malnutrition, fatty

liver, big belly

Kwashiokor

Location of Vitamin

D conversionPCT in kidneys

TTP Thiamine (B1)

FAD, FMN Riboflavin (B2)

Stored in the liverB12 (cobalamin and

folate)

PLP Pyridoxine (B6)

Keeps iron in Fe2+form and absorption

Vitamin C

Chelilosis and

Corneal

Vascularization

Riboflavin deficiency

Energy

malnutrition,

muscle wasting,

skinny as bones

Marasmus

Deficiency causes

macrocytic anemiaWITH neurological

problems

Vitamin B12Cobalamin

Absorption

dependent on the

gut and pancreas

Fat soluble vitamins

Deficiency includes

peripheral

neuropathy

B6 (Pyridoxine)

Diarrhea, Dementia,

and DermatitisPellagra

NADH/NAD+ ratioin liver Ethanol metabolismAlcoholism Thiamine deficiency

Most common

deficiency in USFolate

Cofactor in PPP Thiamine B1

Helps convert

dopamine NE Vitamin C

Deficiency caused

by excessive raw

egg consumption

Biotin

Abnormal myelinVitamin B12

deficiency

Green Leaves FolateCoenzyme for 1

carbon transfersFolate

Synthesized only by

bugs

Vitamin B12

Cobalamin

Excess seen in

sarcodosis

Vitamin D and

calcium.

Inhibits

gluconeogensis and

hypoglycemiaEthanol

Malabsorption, lack

of intrinsic factor,absence of terminal

ileum

Causes of vitaminB12 deficiency

Enzyme that

activates vit D1 hydroxylase

Deficiency causes

scurvyVitamin C

Deficiency induced

by INH and oral

contraceptives

Vitamin B6

Pyridoxine

Shunts away from

glycolysis andtoward fatty acid

synthesis fattyliver

Chronic alcoholism

Antioxidant Vitamin E

PellagraVitamin B3 (niacin)

deficiency

NAD+ is the limiting

reagent

In ethanol

metabolism

Dermatitis, glossitis,

and diarrhea

B-complex

deficienciesHydroxylation of

proline and lysine in

collagen syn.

Vitamin C

Important in

synthesis of DNA

and RNA

Folate

Cobalamin B12


2/12


NAD+ Niacin- B3

Macrocytic anemia

WITHOUT

neurological

problems.

Folate deficiency

INH depletes this B6- pyridoxineSynthesized by

intestinal floraVitamin K

Derived from

tryptophan using

vitamin B6

Niacin (B3)

BeriBeri

Vitamin B1

(thiamine)

deficiency

Constituent of CoA B5 (pantothenate)

Wernicke-Korsakoff

syndrome

Vitamin B1

(thiamine)deficiency

Given to a newborn

at birth to prevent

hemorrhage

Vitamin K

Deficiency caused

by antibiotic useBiotin

Thiamine B1

Active form of

vitamin D

Calcitriol (1,25 (OH)2

D3

Schilling Test Vitamin B12

Catalyzes -carboxylation ofglutamic acid on

blood factors

Vitamin K

Blocks vitamin K Warfarin

Deficiency cause

night blindness and

dry skin

Vitamin A

Involves conversion

of homocysteinemethionine

Vitamin B12

Reduces neural tubedefects Folate

NUTRITIONAL SECTION


3/12


MOLECULAR SECTION

The only histone

NOT in the

nucleosome core

H1

RNA Polymerases

I rRNAII mRNA

III- tRNA

I Ran 2 My 3 Trees

Substituting a

purine for a purine

or pyrimidine for

pyrimidine

Transition

3 steps of

translation

Initiation

Elongation

Termination

Start codon alsomethionine

AUG

Complex RNA

PolymeraseProkaryotes

Amino acids

necessary for purine

synthesis

GAG: Glycine,

Asparate, and

Glutamine

DNA Polymerase I

and IIIProkaryotic

P siteAccommodates

growing Peptide

Specific glycosylasesrecognize and

remove damaged

bases, AP

endonuclease cuts

DNA at apyrimidinic

site, empty sugar is

removed

Base excision repair

More than 1 codon

may code for the

same aa

Degenerate/

redundant

Prevents repair ofthymidine dimers

Mutation in

xeroderma

pigmentosum

5 3- synthesisand proofreads with

35 exonucleaseDNA polymerase III

E siteHolds empty tRNA

as it Exits

Less condensed, Euchromatin

transcriptionally

active chromatin

Inhibits RNA

polyermase II- amanitin

A site

Incoming Aminoacyl

tRNAUnmethylated,

newly synthesized

string is recognized,

mismatched

nucleotides are

removed

Mismatch repair

snRNPsInvolved in pre-

mRNA splicing

mRNA reads from .. 53

Mismatch repair ismutated in this

Hereditary

nonpolyposiscolorectal cancer

(HNPCC)

mRNA stop codon

U Go Away UGA

U Are Away UAA

U Are Gone UAG

RNA Polymerases I,

II, IIIEukaryotes

Specific

endonucleases

release the

oligonucleotide-containing damaged

bases

Nucleotide excision

repair

Tm increases

(melting increases)

With ed G-Ccontent in DNA

Substituting a

purine for a

pyrimidine or vice

versa

Transversion

Condensed,

transciptionally

inactive chromatin

Heterochromatin

Excises RNA primer

with 53exonuclease

DNA Polymerase I

Each codon

specifies only 1 aaUnambiguous

CELLULAR SECTION


4/12


Inhibit G1 Sprogression

Rb and p53 tumor

suppressors

Most commonly

effected collagen in

Ehlers-Danlos

Type III

Caused by a defectin fibrillin

Marfans syndrome

Bone, tendon, skin,

late wound healing

collagen type

Type I

Cross links to make

collagen fibers

Covalent lysine-

hydroxylysine

Caused by excess

elastase activityEmphysema

Permanent cells

(stay in Go phase)

Cardiac and skeletal

cells, neurons, RBCs

Mechansim of theblue sclera

Translucency of theCT over the choroid

ATPase that links

peripheral 9

doublets of

microtubules,causes

bending of cilium

Dynein

What step in

collagen synthesis is

inhibited by scurvy?

Hydroxylation of

proline and lysine

residues

Collagen for

granulation tissueand CT Type III

Vesicular trafficking

protein transGolgi

lysosomes andplasma membrane

endosomes

Clathrin

Disease due to a

microtubule

polymerization

defect inphagocytosis

Chediak-Higashi

Syndrome

Blue ScleraOsteogenesis

imperfecta

Made of

polymerized dimers

of and tubulin MicrotubulesCollagen on the BM Type IV

Collagen disease Ehlers-Danlos

associated with

berry anerysms

Act like RER in

neurons, synthesize

of enzymes and

peptide NTs

Nissl Bodies

Disease that results

from an aa

substitution of

glycine cysteinethat messes up 3x

helix of procollagen

Osteogenesis

imperfecta


protein retrograde

golgi ERCOPI

Cartilage, hyaline,

vitreous body,nucleus pulposus

Type II

Immotile cilia due

to a dynein arm

defect that results

in infertility,

bronchiectasis, and

recurrent sinusitis

Kartageners

syndrome

Failure of addition

of mannose-6-

phosphate to

lysosome proteins

I cell disease

Site of steroid

synthesis and

detoxification of

drugs and poisons

SER

Major component

of RBC membranes,

myelin, bile and

surfactant

Phosphtidylcholine

(Lecithin)

Labile cells (never

go Go, divide fast)

Bone marrow, gut

epi, skin, hair follicle


protein anterograde

from RER GolgiCOPII

Stable (quiescent)

cells (G1 from Go

when stimulated)

Ex. Hepatocytes,

lymphocytes, etc

METABOLISM SECTION

Causes a backup of Alcoholism, pyruvate


5/12


pyruvate and

alanine lacticacidosis

dehydrogenase

deficiency

Use anaerobic

glycolysis

RBCs, leukocytes,

kidney medulla, lens,

testes, and corneaATPase inhibitor in

ETCOligomycin

TCA Cycle

components

Citrate Is Krebs

Starting Substrate For

Making Oxaloacetate

Irreversible

enzymes

Hexokinase/

glucokinase,

phosphofructokinase

Pyruvate kinase,

pyruvate

dehydrogenase,citrate synthase,

isocitrate

dehydrogenase, -ketoglutarate

dehydrogenase

Form of amino

acids found in

proteins

L amino acids

Rate determining

enzyme for de

novo pyrimidime

synthesis

Aspartate

transcarbamylase

Asparate Oxalacetate

Uncoupling agents

2,4-DNP, aspirin,

thermogenin in

brown fat, alcohol

NADPH is used in

these three

processes

1. Anabolic2. Respiratory

burst

3. P-450Absence of

galactose-1-p

uridyltransferase

Galactosemia build

up of toxic galactitol

Retardation, self-

mutilation,

aggression, gout

Symptoms of Lesch-

Nyhan Syndrome

Conversion of

homocysteine to

methionine uses

this cofactor

Vitamin B12

Altered

hemoglobin

precipitates in

RBCs

Heinz bodies

Deficiency in

hexosaminidase A accumulationof GM2

ganglioside

Tay-Sachs disease

Glutathione PPP shunt

Ammonium in

transported via

two amino acids

Alanine and

glutamate

Complex I

inhibitor in ETCRotenone

Glutamate -ketoglutarate

Rate determiningenzyme for

gluconeogenesis

Fructose 1,6

bisphophatase

Amino acids that

are ed inhistones

Arginine and Lysine

Galactosemia

causes

Cataracts,

hepatosplenomegaly

mental retardation

Glucokinase is

used instead of

hexokinase inthese tissues

Liver and cells of

pancreas

Deficiency in

sphinomyelinase

accumulationof sphinomyelin

Niemann-Pick disease

Amino acids that

are glucogenic

Methionine, Valine,

Arginine, Histidine

Deficient in

chronic

granulomatous dx

NADPH oxidase

Deficiency in -galactosidase A

accumulation of

ceramide

trihexoside

Fabrys disease

Alanine Pyruvate

Rxn catalyzed by

myeloperoxidase

H202 + Cl HOCl*

(bleach)


6/12


Dont need insulin

for glucose uptake

BRICK LBrain, RBC,

Intestine, Cornea,

Kidney, Liver

Deficiency in -glucocerbrosidase accumulation

of

glucocerebroside

Gauchers disease

(most common

lysosomal disease)

Rate determining

enzyme for

glycogen synthesis

Glycogen synthase

Ketone bodies are

used by what in

starvation

Brain and heart

Complex III

inhibitor in ETC Antimycin A

Inducible by

insulin

Glucokinase NOT

hexokinase

GLUT 1 Receptors RBCs, Brain

Deficiency in

galactocerebrosid

asaccumulation of

galactocerebrosid

e

Krabbes disease

Congential defect

in tyrosinase socant tyrosine

melanin or

defective tyrosine

transporter

Albinism

Rxn catalyzed by

superoxide

dismutase

O2* H2O2

Cherry red spots,

lysosomes with

onion skin,

neurodegeneration

Tay-Sachs disease

Has variable

inheritance due to

locus

heterogeneity

Albinism

Deficiency in

aldose B causes

Fructose-1-P to build

up and in

availbalility of

phosphate

Rate determining

enzyme for de

novo purine

synthesis

Glutamine-PRPP

amidotransferase

Ms that look likecrumpled tissue

pp

Gauchers cells

Cannot participate

in gluconeogenesis

Muscle cells (only

liver, kidney, and epi

cells can)

GLUT 4 receptorsFat and muscle

(respond to insulin)

This is the product

of the PPP shuntNADPH

glycogen inmuscle, but

cannot break it

down painfulcramps,

myoglobinuria

with strenuous

exercise

McArdles disease

(type V GSD)

Without reduced

glutathione, you

cant convert what

H202 2H20

Hemolytic anemiaseen in this

deficiency

G6PD deficiency

Deficiency in

arylsufatase Aaccumulation of

cerebroside

sulfate

Metachromatic

leukodystrophy

Mechanism of

hemolytic anemia

caused by G6PD

deficiency

in NADPH poordefense mechanisms

to oxidizing agents

Rate determining

enzyme for TCA

cycle

Isocitrate

dehydrogenase

Congenital

deficiency of

homogentisic acid

oxidase in

degradation of

Alkaptouria


7/12


tyrosine

Tyrosine makes

these

Thyroxine, Melanin,

Dopamine, NE, Epi

Complex IV

inhibitor in ETCCO, CN-

Products oftryptophan

Niacin, serotonin

Central and

peripheral

demyelination

with ataxia,

dementia

Metachromatic

keukodystrophy

Progressive

neurogeneration,

cherry-red spot on

macula,

hepatosplenomeg,foam cells

Niemann-Pick disease

Transketolases

require this

coenzyme

Vitamin B1

Location of FFA

synthesisCytoplasm

The porphyrin ring

of heme is made

from this amino

acid

Glycine

Negative feedback

at rate-limiting

step of glycolysis

ATP, citrate

Ketone body not

detected in the

urine

-hydroxybutyrate

GLUT 2 Receptors cells, liver, kidneyRate determining

enzyme for

glycolysis

Phosphofructokinase

1

Deficiency inMcArdles disease

Skeletal muscle

glycogen

phosphorylase

Made from

PhenylalanineTyrosine

Positive feedback

for rate limiting

step of glycolysis

AMP, fructose 2,6-BP

Delivers

triglycerides to

peripheral tissues

and delivers

cholesterol to

back to liver inremnants

Chylomicrons

Product of

histidineHistamine

Essential

fructosuria is a

defect in

Fructokinase

Negative feedback

at first step of

glycolysis

Glucose 6-P

Lipoprotein that is

secreted byintestinal epi cells

Chylomicrons

Complex

dehydrogenases

Pyruvate and -ketoglutarate

In a fasting state

when you need

glucose

Enzyme - Fructose

bisphophatase 2

Converts fructose-2.6-

bisphosphate

fructose 6-P

glucose

Result of

phagocytic

removal of Heinz

bodies by MsBite cells

Causes of

hemolytic anemia

in G6PD deficient

patients

Fava beans,

sulfonamides,

primaquine, anti-TB

drugs

The most potent

activator of

phosphofructokina

s

F2,6 BP

Location of FFA

degradation Mitochondria

The only pure

ketogenic amino

acids

Lysine and Leucine

Rate determining

enzyme for

Glycogenolysis

Glycogen

phosphorylase

Chylomicron B-48, A-IV, C-II, E


8/12


apolipoproteins

Type of fatty acid

that can serve as a

glucose source

Odd-chain fatty acids

that yield 1 propionyl-

CoA

Mediates reverse

cholesteroltransport. Acts as

a repository for

apoC and apoE

HDL

Activated carrier

for aldehydesTPP

LDL

apolipoproteinsB-100

Rate determining

enzyme for urea

cycle

Carbamoyl phosphate

synthase I

Deficient enzyme

in Coris Disease

Debranching enzyme

-1,6 glucosidaseGlutamate GABA, Glutathione

Activated carrier

for electrons

NADH, NADPH,

FADH2

Gluconeogenesis

starts with what

Pyruvate

oxalacetate in mito

then PEP in cytosol

Blocked

degradation of

branched aminoacids (Ile, Val, Leu)

Maple Syrup Urine

Disease

Negative feedback

for pyruateacetyl CoA in

glycolysis

ATP, NADH, acetyl-

CoA

Rate determining

enzyme for fatty

acid synthesis

Acetyl-CoA

carboxylase

Disease caused by

the absence of

HGPRT

Lesch-Nyhan

Syndrome

In an active fed

state when you

need to

breakdown

glucose

Enzyme

phosphofructokinase

2 converts fructose 6-

P Fructose2,6-P

which is a POTENT

activator of PFK-1

Cofactors for

pyruvate and -KG Pyrophosphate B1;TPP

DH complex FAD B2

NAD B3

CoA B5

Lipoic acid

Glucose 6-

phosphatasedeficiency

resulting in

accumulation of

excessive glycogen

Von Gierkes Disease

Black urine and

dark CTAlkaptonuria

Negative feedback

at PEP pyruvatein glycolysis

ATP, alanine

Adenosinedeaminase

deficiency can

cause this

SCID prevents DNA

synthesislymphocytes

Positive feedback

for PEPpyruvate in

glycolysis

Fructose 1,6 BP

Rate determining

enzyme for heme

synthesis

ALA synthase

Milder form of

type 1 GSD with

normal blood

lactate levels

Coris disease (type III

GSD)

Delivers hepatic

cholesterol to

peripheral tissues.

Taken up by target

cells by

endocytosis

LDL

Activated carrier

CO2Biotin

Converts

hypoxanthineIMP and guanine

GMPHGPRT

Staghorn calculi

Ammonium

magnesium

phosphate kidney

stones


9/12


Activated carrier

for CH3 groupsSAM

Severe fasting

hypoglycemia,glycogen in liver,

blood lactate,hepatomegaly.

Von Gierkes disease

(type 1 GSD)

Arginine Creatine, Urea, NO

Rate determining

enzyme for Fatty

acid oxidation

Carnitine

acyltransferase I

Lipoprotein that is

secreted by both

liver and intestine

HDL

in phenylalaninehydroxylase so

cant tyrosinePKU

What is ed inhyper

cholesterolemia

(Type IIa familial

dyslipidemia)

LDL with elevated

levels of cholesterol in

the blood

GSD that results in

cardiomegaly and

systemic findings

early death

Pompes disease (type

II GSD)

Delivers hepatictriglycerides to

peripheral tissues

VLDL

Activated carrier

for 1-carbon unitsTetrahydrofolates

Activated carrier

for acyl

Coenzyme A,

lipoamide

Lipoprotein that is

secreted by the

liver

VLDL

Treatment for CN-

poisoning

Use nitrites to oxidize

Hb to MetHb which

will bind CN- then use

thiosulfate to bind

this CN forming

thiocyanate which is

renally excreted

Form of Hb that

has low affinity for

O2

T (tense)

Oxidized form of

Hb has affinityfor CN

Methemoglobin

VLDL

apolipoproteinB-100, C-II and E

Treatment of

jaundice

newborns

Exposure to UV lightconverts bilirubin

urine-soluble

products

Rate determining

enzyme for

ketogenesis

HMG-CoA synthase

Deficient enzyme

in Pompes

disease

Lysosomal 1,4-glucosidase

Activated carrier

for phoshoryl

ATP

Deficient enzyme

in Von Gierkes Dx

Glucose-6-

phosphatase

IDL

apolipoproteinsB-100 and E

phenylalanineand tyrosine

consumption (no

diet pops!)

PKU

Rate determining

enzyme for

cholesterolsynthes

HMG-CoA reductase

Gives bruises their

blue green colorBiliverdin

Lipoprotein lipase

deficiency or

altered

apolipoprotein C-II

Hyperchylo-

micronemia (familial)

in LDL receptors Type IIa familialdyslipidemia - hypercholesterolemia

Microlytic

hypochromic

anemia pathology

Underproduction ofheme

What is ed intype IV familial

dyslipidemia

(hypertri-

glyceridemia)

VLDL and TG is

elevated in the blood.


10/12


Vitamin needed

for heme synthesisB6

Hepatic overload

of VLDL

Hypertriglycerid-emia

(familial)

Formed in the

degradation ofVLDL. Delivers TGL

and cholesterol to

liver, where they

are degraded to

LDL

IDL

Rate determining

enzyme for PPP

Shunt

Glucose-6-phosphate

dehydrogenase

What is ed intype I familial

dyslipidemia(hyperchylo-

micronemia)

Chylomicrons with TG

and cholesterol ed inthe blood

Musty body odor

in PKU due to

Aromatic amino acid

metabolism disorder

Form of Hb afO2

R (relaxed)

BIOCHEMISTRY - GENETICS

Marfans syndrome AD

Location of CFTR

gene

Ch 7

Presence of both

normal and mutated

mtDNA variableexpression in

mitochondrial

inherited diseases

Heteroplasmy

Trisomy __ for Down

Syndrome21

X-linked recessive

disorders

Be Wise Fools

GOLD Heeds False

Hope

Trinucleotide repeat

expansion diseases

Huntingtons

disease, myotonic

dystrophy,

Friedreichs ataxia,

fragile X.

Occurs when cells in

body have different

genetic makeup

Mosaicism

Familial Hyper-

cholesterolemiaAD

Trisomy __ for

Pataus syndrome13 (Puberty)

MR, obesity,

hypogonadism,hyptonia

Pader-Willi

syndrome (paternalactive deletion)

Polydactyly Pataus syndrome

Bilateral absence of

vas deferns in malesCystic fibrosis

Fragile X X-linked recessive

Differences in

phenotype depend

on whether mutation

is from mom or dad

Imprinting

suspectibility toother tumors

Neurofibromatosis

type 1

-hCG Prenatal screeningfor DownSyndrome

Neurofibromatosis

type 2AD

2nd most common

cause of genetic

mental retardation

Fragile X

Always bilateral due

to a mutation in

APKD1

Adult Polycystic

Kidney Disease

Example of locus

heterogeneityAlbinism

Triple repeat

disorder (CGG) may

show genetic

anticipation

Fragile X

G6PD Deficiency X-linked recessive

Trisomy __ for

Edwards syndrome18 (Election age)

Example of

anticipation

Huntingtons

disease

95% meiotic

nondisjunction

Genetics of down

syndrome

Brutons

agammaglobulinemiaX-linked recessive

Autosomal recessive

defect in CFTR geneCystic fibrosis

Neurofibromatosis AD


11/12


type I

Ocular albinism X-linked recessive

Adult Polycystic

kidney diseaseAD

Clenched hands Edwards syndrome

Wiskott-Aldrichsyndrome

X-linked recessive

Simian crease Down Syndrome

Mutations at

different loci can

produce the same

phenotype

Locus

heterogeneity

-fetoprotein Prenatal screeningfor DownSyndrome

Treatment of CF

N-acetylcysteine to

loosen mucousplugs

Rocker bottom feet Edward and

Pataus syndrome

MR, seizures, ataxia,

inappropriate

laughter, HAPPY

PUPPET

Angelmans

Syndrome

(maternal active

deletion)

Disease risks for

Down Syndrome

ALL, Alzheimers >

35Random X

inactivation in

females

Lyonization

Location of NF2 gene Ch. 22

Most common cause

of genetic

retardation

Down Syndrome

Due to defective or

absent LDL receptor

Familial hyper-

cholesterolemia

Hardy-Weinberg

equation

p2

+ 2pq + q2

= 1

p + q = 1

Long face with a

large jawFragile X

Gene location of

Neurofibromatosis

type 1 mutation

Ch. 17

Examples of

imprinting

Angelmans

Syndrome mom

Prader-Willi

syndrome

paternal

Chromosomal

inversion that

involves thecentromere and

proceeds through

meiosis

Pericentric

Bilateral acoustic

neuroma

Neurofibromatosis

type 2

Space btn first 2 toes Down Syndrome

Ash leaf spots on skin Tuberous sclerosis

Fabrys Disease X-linked recessive

Associated with

polycystic liver, berry

aneurysms, andmitral valve prolapse

Adult Polycystic

Kidney Disease

Severity of disease

worsens/age of

onset is earlier in

succeeding gener.

Anticipation

Fibrillin gene

mutation CT dxs Marfans syndromeFrame-shift mutation

deletion ofdystrophin gene

Duchennes

Muscular

Dystrophy

Location of APC genefor familial

adenomatous

polyposis

Ch 5

Septum primum-type

ASD due to

endocardial cushion

defects

Down Syndrome

Example of

incomplete

penetrance

Tuberous sclerosis

nuchaltranslucency

Prenatal screening

for Down

Syndrome

Reason for

pseudohypertrophy

of calf muscles

Fibrofatty

replacement of

muscle

Hemophilia A and B X-linked recessive

Chromosomal

inversion that doesParacentric


12/12


not involve the

centromere and does

not proceed through

meiosis

Huntingtons disease AD

Congenital defect inshort arm of ch 5

Cri-du-chatsyndrome

Large everted ears Fragile X

Hemangioblastomas

of retina/cerebellum

/ medulla

von Hippel-Lindau

disease

Hunters Syndrome X-linked recessive

DiGeroge Syndrome No thymus

Pseudohypertrophy

of calf muscles

Duchennes

Muscular

Dystrophy

Bilateral renal cellcarcinomas

von Hippel-Lindaudisease

Caf au lait spots,

neural tumors, Lisch

nodules

Neurofibromatosis

type 1

Defect of fibroblast

growth factor (FGF)

receptor 3

Achondroplasia

Hereditary

spherocytosisAD

Adenoma sebaceum Tuberous sclerosis

Weakness in pelvicgirdle muscle and

progresses superiorly

DuchennesMuscular

Dystrophy

PheochromocytomaNeurofibromatosis

type 1

Lesch-Nyham

syndromeX-linked recessive

Duchennes muscular

dystrophyX-linked recessive

APKDI gene location Ch. 16

Familial

AdenomatousPolyposis AD

Location of VHL gene Ch. 3

Deletion of VHL gene

(tumor suppressor)

von Hippel-Lindau

disease

Tuberous sclerosis AD

X linked defect

affecting methylationFragile X

and expression of

FMR1 gene

Achondroplasia AD

Mutated dystrophin

gene

Beckers Muscular

Dystrophy

DiGeorge Syndrome 22q11Gene location for

Huntingtons diseaseCh 4

Gowers maneuver

Duchennes

Muscular

Dystrophy

von Hippel-Lindau

diseaseAD

Macro-orchidism Fragile X

Triplet repeat

disorder that levelsof GABA and Ach in

brain

Huntingtons

disease

Diagnosis of

Duchennes Muscular

Dystrophy

CPK and musclebiopsy

Documents

Biochemistry Word Association