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What is the Definition of Phenylketonuria?

definition phenylketonuria
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What is the Definition of Phenylketonuria?

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Phenylketonuria (PKU) is a metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the interrupted metabolism of dietary phenylalanine results in accumulation of the amino acid in body fluids with resultant, progressive, irreversible mental retardation.

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