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

doi:10.1016/S0022-3476(99)70138-1

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

MED - Medical Sciences

Research output: Contribution to journal › Article

268 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	375-378
Number of pages	4
Journal	Journal of Pediatrics
Volume	135
Issue number	3
DOIs	https://doi.org/10.1016/S0022-3476(99)70138-1
Publication status	Published - 1999 Jan 1

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1016/S0022-3476(99)70138-1

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Cite this

Kure, S., Hou, D. C., Ohura, T., Iwamoto, H., Suzuki, S., Sugiyama, N., Sakamoto, O., Fujii, K., Matsubara, Y., & Narisawa, K. (1999). Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Journal of Pediatrics, 135(3), 375-378. https://doi.org/10.1016/S0022-3476(99)70138-1

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author = "Shigeo Kure and Hou, {Dian Chang} and Toshihiro Ohura and Hiroko Iwamoto and Shuhei Suzuki and Naruji Sugiyama and Osamu Sakamoto and Kunihiro Fujii and Yoichi Matsubara and Kuniaki Narisawa",

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AU - Kure, Shigeo

AU - Hou, Dian Chang

AU - Ohura, Toshihiro

AU - Iwamoto, Hiroko

AU - Suzuki, Shuhei

AU - Sugiyama, Naruji

AU - Sakamoto, Osamu

AU - Fujii, Kunihiro

AU - Matsubara, Yoichi

AU - Narisawa, Kuniaki

PY - 1999/1/1

Y1 - 1999/1/1

N2 - 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.

AB - 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.

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