الفهرس 
Definition of phenylketonuria
Management of phenylketonuriaOnly 14 pages are availabe for public view
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Abstract
Phenylketonuria is a rare inborn inherited disorder of metabolism disease due to an autosomal recessive inheritance, consanguinity among carrier couples is considered the main risk factor that causing an inborn error of phenylalanine; metabolism. Phenylketonuria is mainly caused by a deficiency of phenylalanine hydroxylase. This disease, if untreated, the neurotoxic effect of excess phenylalanine can lead to impaired postnatal cognitive development and irreversible brain damage and in severe cases, it may lead to death.