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Article

Phenylalanine hydroxylase deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2011

Mitchell John J, Trakadis Yannis J, Scriver Charles R

Abstract excerpt

Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, mild phenylketonuria, and mild hyperphenylalaninemia. Classic phenylketonuria is caused by a complete or...

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PMID: 21555948
DOI: 10.1097/GIM.0b013e3182141b48

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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