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Phenylketonuria (PKU). Cindy Lee. WHAT IS IT?. autosomal recessive metabolic generic disorder Mutation in the gene for phenylalanine hydroxylase (PAH) a hepatic enzyme PAH is used to metabolize phenylalanine (Phe –amino acid) into tyrosine. - PowerPoint PPT Presentation
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autosomal recessive metabolic generic disorder
Mutation in the gene for phenylalanine hydroxylase (PAH) a hepatic enzyme
PAH is used to metabolize phenylalanine (Phe –amino acid) into tyrosine.
The mutation in the enzyme makes the enzyme nonfunctional
WHAT IS IT?
When phenylalanine piles up, it turns into phenylpyruvate, which is also known as phenylketone can be detected in your pee
DETECTION TECHNIQUES
Babies are screened for PKU soon after birth in developed nations
Screening is done by: Guthrie Test (bacterial inhibition assay)Immunoassays (fluorometric/photometric
detection)Tandem Mass Spectrometry (MS/MS)
Amino acid measurement
SCREEN TESTING
Routine newborn screening test is typically performed 2-7 days after birthUses samples drawn by neonatal heel prick
The disease may be present with seizures, albinism, and a musty odor (due to phenylacetate produced in sweat and urine)
Usually, tests are repeated at two weeks of age In order to verity the initial test
LACK OF TREATMENT = Although generally healthy at birth, they
fail to attain early developmental milestonesDevelop microcephalyDemonstrate progressive impairment of cerebral function
Later in life:Show hyperactivityEEG abnormalitiesSeizuresSevere learning disabilities “musty/mousy” odor of skin, hair, weat, and urine tendency towards hypopigmentation tendency towards eczema
IN CONTRAST…
affected children who are treatedLess possibility for neurological
problems Less likely to have seizuresLess likely to have mental retardation
INCIDENCESCOUNTRY RATIO
TURKEY 1 IN 2,600
IRELAND 1 IN 4,500
NORWAY 1 IN 13,000
UNITED STATES 1 IN 15,000
CHINA 1 IN 18,000
INDIA 1 IN 18,300
KOREA 1 IN 41,000
JAPAN 1 IN 120,000
FINLAND <1 IN 100,000