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Article

Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan.

Mutation research - 15 May 2003

Vallian Sadeq, Barahimi Elham, Moeini Hasan

Abstract excerpt

Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene (12q22-q24) resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe) and production of the phenylketonuria (PKU) disease. To date there have been no reports on the molecular analysis of PKU in Iranian population. In this study, the states of the PKU disease in terms of...

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Identifiers

PMID: 12714182
DOI: 10.1016/s0027-5107(03)00015-0

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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