Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Shigeo Kure, Dian Chang Hou, Toshihiro Ohura, Hiroko Iwamoto, Shuhei Suzuki, Naruji Sugiyama, Osamu Sakamoto, Kunihiro Fujii, Yoichi Matsubara, Kuniaki Narisawa

Research output: Contribution to journalArticlepeer-review

277 Citations (Scopus)


Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine excretion or in dihydropteridine reductase activity. However, mutations were detected in the phenylalanine hydroxylase gene, suggesting a novel subtype of phenylalanine hydroxylase deficiency that may respond to treatment with cofactor supplementation.

Original languageEnglish
Pages (from-to)375-378
Number of pages4
JournalJournal of Pediatrics
Issue number3
Publication statusPublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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