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Article

The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.

Journal of inherited metabolic disease - 1 Oct 2007

Bóveda M D, Couce M L, Castiñeiras D E, Cocho J A, Pérez B, Ugarte M, Fraga J M

Abstract excerpt

The response to tetrahydrobiopterin (BH4) in patients with phenylalanine hydroxylase (PAH, EC 1.14.16.1) deficiency (OMIM 261600) has been widely reported. Here we report results of the BH4 loading test (20 mg/kg per day) in a group of 36 patients with PAH deficiency and phenotype of mild hyperphenylalaninaemia (HPA), mild phenylketonuria (PKU) or classic PKU. The patients ranged from neonates aged 7-15 days,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17603758
DOI: 10.1007/s10545-007-0567-1

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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The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.PMID 17603758Read ↗

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