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Article

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.

Human mutation - 1 Nov 2004

Pey Angel L, Pérez Belén, Desviat Lourdes R, Martínez Maria Angeles, Aguado Cristina, Erlandsen Heidi, Gámez Alejandra, Stevens Raymond C, Thórólfsson Matthías, Ugarte Magdalena, Martínez Aurora

Abstract excerpt

A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor (tetrahydrobiopterin, BH4) supplementation has been associated with phenylketonuria (PKU) mutations. The underlying molecular mechanism of this responsiveness is as yet unknown and requires a detailed in vitro expression analysis of the associated mutations. With this aim, we optimized the analysis of the kinetic and cofactor...

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Identifiers

PMID: 15459954
DOI: 10.1002/humu.20097

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PAH

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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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Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.PMID 15459954Read ↗

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