PHENYLKETONURIA

Phenylketonuria

Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase, rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate, which can be detected in the urine.

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phenylketonuria

Noun

  1. A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine.


The above text is a snippet from Wiktionary: phenylketonuria
and as such is available under the Creative Commons Attribution/Share-Alike License.

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