Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

被引：22

作者：

Kure, S

Kojima, K

Ichinohe, A

Maeda, T

Kalmanchey, R

Fekete, G

Berg, SZ

Filiano, J

Aoki, Y

Suzuki, Y

Izumi, T

Matsubara, Y

机构：

[1] Tohoku Univ, Sch Med, Dept Med Genet, Aoba Ku, Sendai, Miyagi 9808574, Japan

[2] Oita Med Univ, Sch Med, Dept Pediat, Oita, Japan

[3] Semmelweis Univ, Dept Pediat, H-1085 Budapest, Hungary

[4] Dartmouth Hitchcock Med Ctr, Dept Clin Genet, Lebanon, NH 03766 USA

来源：

ANNALS OF NEUROLOGY | 2002年 / 52卷 / 05期

关键词：

D O I：

10.1002/ana.10367

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal. fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers; for nonketotic hyperglycinemia.

引用

页码：643 / 646

页数：4

共 21 条

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