Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia

被引：17

作者：

Hirano, M ^{[1
]}

Ueno, S ^{[1
]}

机构：

[1] Nara Med Univ, Dept Med Genet, Nara 6348521, Japan

来源：

NEUROLOGY | 1999年 / 52卷 / 01期

关键词：

D O I：

10.1212/WNL.52.1.182

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Guanosine 5'-triphosphate cyclohydrolase I (GCH) mutants (H144P and T186K) associated with dominant dopa-responsive dystonia were enzymatically inactive and inhibited the normal enzyme, suggesting that GCH activity in a heterozygote was <50% of control. The M211I mutant associated with recessive hyperphenylalaninemia was slightly active and had no inhibitory effects, so GCH activity in a heterozygote would be <50% of normal; therefore hyperphenylalaninemia would be evident only in homozygotes.

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页码：182 / 184

页数：3

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