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Article

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.

Molecular genetics and metabolism - 1 Dec 2005

Fiege Betina, Bonafé Luisa, Ballhausen Diana, Baumgartner Matthias, Thöny Beat, Meili David, Fiori Laura, Giovannini Marcello, Blau Nenad

Abstract excerpt

Patients with tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency may benefit from BH4 therapy instead or in addition to the low-phenylalanine diet. Different loading test protocols are currently used to detect these patients. As a consequence, data on the rate of BH4-responsiveness within patients with mild phenylketonuria (PKU) and/or more severe phenotypes show high variation and a...

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Source

Identifiers

PMID: 16290003
DOI: 10.1016/j.ymgme.2005.09.014

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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