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Article

Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.

Molecular genetics and metabolism - 1 Dec 2005

Fiori Laura, Fiege Betina, Riva Enrica, Giovannini Marcello

Abstract excerpt

BACKGROUND: Hyperphenylalaninemia (HPA) is an inherited metabolic disorder due to deficiency of the enzyme phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4). BH4-responsiveness in PAH-deficient HPA is a recently described characteristic of most milder phenotypes. BH4-responsive patients show reduction of plasma phenylalanine (phe) levels after oral administration of BH4. AIM: Determination...

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Source

Identifiers

PMID: 16198137
DOI: 10.1016/j.ymgme.2005.06.017

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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