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Article

Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.

Journal of inherited metabolic disease - 1 Jan 2004

Johnston J J, Lichter-Konecki U, Wilson E, Cobb B R, Evans B M, Schnur R E, Wong L-J C

Abstract excerpt

Classical phenylketonuria (PKU) and mild hyperphenylalaninaemia (MHP) are two ends of the broad diagnostic spectrum in phenylalanine hydroxylase (PAH) deficiency. We have analysed a family in which classical PKU, MHP and a normal phenotype occurred in family members with different mutations. Sequence analysis revealed three mutations segregating in the family. The individual with classical PKU had two previously...

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Source

Identifiers

PMID: 15159646
DOI: 10.1023/B:BOLI.0000028782.39513.20

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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