Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

被引：257

作者：

Kure, S

Hou, DC

Ohura, T

Iwamoto, H

Suzuki, S

Sugiyama, N

Sakamoto, O

Fujii, K

Matsubara, Y

Narisawa, K

机构：

[1] Tohoku Univ, Dept Med Genet, Sch Med, Aoba Ku, Sendai, Miyagi, Japan

[2] Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan

[3] Kanagawa Childrens Med Ctr, Div Pediat Neurol, Yokohama, Kanagawa, Japan

[4] Osaka Med Coll, Dept Pediat, Takatsuki, Osaka 569, Japan

[5] Yokkaichi Municipal Hosp, Dept Pediat, Yokkaichi, Mie, Japan

来源：

JOURNAL OF PEDIATRICS | 1999年 / 135卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(99)70138-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：375 / 378

页数：4

共 15 条

[11] TETRAHYDROBIOPTERIN LOADING TEST IN HYPERPHENYLALANINEMIA [J].