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Article

Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.

Medical science monitor : international medical journal of experimental and clinical research - 1 Mar 2003

Kasnauskiene Jürate, Cimbalistiene Loreta, Kucinskas Vaidutis

Abstract excerpt

BACKGROUND: Phenylalanine hydroxylase (PheOH) deficiency is inherited as an autosomal recessive trait. The associated hyperphenylalaninemia phenotype is highly variable, primarily due to great allelic heterogeneity in the PAH locus. The goal of our study was to assess the relationship between individual PAH locus mutations and biochemical and metabolic phenotypes in phenylketonuria (PKU) and mild...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12640344

Genes

PAH

Provenance

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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