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 patients with mild PKU respond to BH4. We performed the phenylalanine breath test as reliable method to determine the BH4...
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