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Article

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

Molecular genetics and metabolism - 1 Apr 2009

Blau Nenad, Bélanger-Quintana Amaya, Demirkol Mübeccel, Feillet François, Giovannini Marcello, MacDonald Anita, Trefz Friedrich K, van Spronsen Francjan J

Abstract excerpt

Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to deficient conversion of phenylalanine (Phe) to tyrosine and accumulation of toxic levels of Phe. A Phe-restricted diet is essential to reduce blood Phe levels and prevent long-term neurological im...

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Identifiers

PMID: 19208488
DOI: 10.1016/j.ymgme.2009.01.002

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PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19208488-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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