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Article

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Journal of inherited metabolic disease - 1 Sept 1997

Guzzetta V, Bonapace G, Dianzani I, Parenti G, Lecora M, Giannattasio S, Concolino D, Strisciuglio P, Sebastio G, Andria G

Abstract excerpt

Phenylketonuria (PKU) is an autosomal recessive disease caused by the deficiency of a liver-specific enzyme, phenylalanine hydroxylase (PAH). The pattern of PAH mutations in Mediterranean populations appears to be different from that observed in northern Europe and Asia. Our aim was to study the...

Topics

Adolescent
Adult
Child
Child, Preschool
Female
Genotype
Humans
Infant
Male
Mutation
Phenotype
Phenylalanine Hydroxylase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenylketonurias

Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 9323556
DOI: 10.1023/a:1005315106604

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9323556-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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