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Article

In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings.

Journal of inherited metabolic disease - 1 Jan 1996

Treacy E, Pitt J J, Seller K, Thompson G N, Ramus S, Cotton R G

Abstract excerpt

Mutation at the phenylalanine hydroxylase (PAH) locus is a cause of hyperphenylalaninaemia. Genotype-phenotype correlation relative to the predicted PAH activity may differ at the metabolite level and at the IQ level in untreated phenylketonuria. Discordant metabolic phenotypes have been noted in siblings; influences on transport and metabolism of phenylalanine determining homeostasis may account for differing...

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Identifiers

PMID: 8892014
DOI: 10.1007/BF01799832

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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