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Article

In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Pediatric research - 1 Nov 2004

Okano Yoshiyuki, Hase Yutaka, Kawajiri Mie, Nishi Yasuaki, Inui Koji, Sakai Norio, Tanaka Yoko, Takatori Kazuhiko, Kajiwara Masahiro, Yamano Tsunekazu

Abstract excerpt

Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is characterized by reduction of blood phenylalanine level after a BH4-loading test. Most cases of BH4-responsive PAH deficiency include mild phenylketonuria (PKU) or mild hyperphenylalaninemia (HPA), but not all pati...

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Source

Identifiers

PMID: 15319459
DOI: 10.1203/01.PDR.0000141520.06524.51

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15319459-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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