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phenylketonuria
Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine.
Untreated PKU can lead to mental retardation, seizures, and other serious medical problems.
Phenylketonuria is inherited in an autosomal recessive fashion.
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