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Phenylketonuria (PKU) Primary Defect Deficiency of the liver enzyme phenylalinine hydroxylase Screening Test Biological inhibition assay to measure phenylalinine level. Confirmation by HPLC measurement of phenylalinine and tyrosine Etiology & Prevalence Genetic (autosomal recessive) About one in every 15,000 babies in Washington State is born with PKU. If Untreated Mental retardation and central nervous system abnormalities Therapy Severe restriction of dietary phenylalinine With Treatment Normal mental and nervous system development |
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Washington State Department of Health Last
Update :
11/20/2006 09:48 AM
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