Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: Mutational and in vitro expression analyses in two patients

被引：23

作者：

Kure, S

Ichinohe, A

Kojima, K

Sato, K

Kizaki, Z

Inoue, F

Yamanaka, C

Matsubara, Y

机构：

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

[2] Kyoto Prefectural Univ Med, Dept Pediat, Kyoto 602, Japan

[3] Tenri Hosp, Dept Pediat, Tenri, Nara, Japan

来源：

JOURNAL OF PEDIATRICS | 2004年 / 144卷 / 06期

关键词：

D O I：

10.1016/j.jpeds.2004.02.044

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

In neonatal-onset nonketotic hyperglycinemia, severe psychomotor retardation is the expected uniform outcome. We report two patients with typical neonatal presentation who showed far better developmental outcomes. The in vitro expression analysis of the identified GLDC mutations revealed considerable residual enzyme activity, suggesting prognostic and enzymatic heterogeneity even in neonatal-onset nonketotic hyperglycinemia.

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页码：827 / 829

页数：3

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