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

Research output: Contribution to journal › Article › peer-review

277 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
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(99)70138-1

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title = "Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency",

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.",

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",

note = "Funding Information: Supported by grants from the Ministry of Education, Science, Sports and Culture and the Ministry of Health and Public Welfare, Japan. ",

year = "1999",

doi = "10.1016/S0022-3476(99)70138-1",

language = "English",

volume = "135",

pages = "375--378",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Mosby Inc.",

number = "3",

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TY - JOUR

T1 - Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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

N1 - Funding Information: Supported by grants from the Ministry of Education, Science, Sports and Culture and the Ministry of Health and Public Welfare, Japan.

PY - 1999

Y1 - 1999

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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UR - http://www.scopus.com/inward/citedby.url?scp=0033504353&partnerID=8YFLogxK

U2 - 10.1016/S0022-3476(99)70138-1

DO - 10.1016/S0022-3476(99)70138-1

M3 - Article

C2 - 10484807

AN - SCOPUS:0033504353

VL - 135

SP - 375

EP - 378

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 3

ER -

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Abstract

ASJC Scopus subject areas

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