Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults

被引：30

作者：

Dinopoulos, A

Kure, S

Chuck, G

Sato, K

Gilbert, DL

Matsubara, Y

Degrauw, T

机构：

[1] Childrens Hosp, Med Ctr, Div Neurol, Cincinnati, OH 45229 USA

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

来源：

NEUROLOGY | 2005年 / 64卷 / 07期

关键词：

D O I：

10.1212/01.WNL.0000156800.23776.40

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.

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页码：1255 / 1257

页数：3

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