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Article

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.

Molecular genetics and metabolism - 1 Dec 2005

Bélanger-Quintana Amaya, García María José, Castro Margarita, Desviat Lourdes R, Pérez Belén, Mejía Blanca, Ugarte Magdalena, Martínez-Pardo Mercedes

Abstract excerpt

A novel subtype of patients with mutations in the phenylalanine hydroxylase (PAH) gene that show a positive response during a tetrahydrobiopterin (BH4) loading test has recently been recognized. These studies suggest that a number of phenylketonuric (PKU) patients may benefit from BH4 substitution, eliminating the need of life-long dietary restrictions. In our unit, we performed BH4 overload tests in 50...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16165389
DOI: 10.1016/j.ymgme.2005.07.024

Genes

PAH

Provenance

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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