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Article

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.

Clinical genetics - 1 Jul 2015

Vela-Amieva M, Abreu-González M, González-del Angel A, Ibarra-González I, Fernández-Lainez C, Barrientos-Ríos R, Monroy-Santoyo S, Guillén-López S, Alcántara-Ortigoza M A

Abstract excerpt

The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a differential geographical distribution. Genotype-phenotype correlations and genotype-based predictions of responsiveness to tetrahydrobiopterin (BH4 ) have never been performed. We sequenced the PAH gene and determined the geographic origin of each allele,...

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Identifiers

PMID: 24941924
DOI: 10.1111/cge.12444

Genes

PAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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