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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...

Topics

Alleles
Child, Preschool
DNA Mutational Analysis
Family Health
Female
Genotype
Humans
Male
Pedigree
Phenotype
Phenylalanine Hydroxylase
Phenylketonurias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

Siblings

Source

Identifiers

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

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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