ATYPICAL NONKETOTIC HYPERGLYCINEMIA CONFIRMED BY ASSAY OF THE GLYCINE CLEAVAGE SYSTEM IN LYMPHOBLASTS

被引：21

作者：

CHRISTODOULOU, J

KURE, S

HAYASAKA, K

CLARKE, JTR

机构：

[1] HOSP SICK CHILDREN, DIV CLIN GENET, TORONTO M5G 1X8, ONTARIO, CANADA

[2] TOHOKU UNIV, SCH MED, DIV BIOCHEM GENET, SENDAI, MIYAGI 980, JAPAN

[3] AKITA UNIV, SCH MED, DEPT PEDIAT, AKITA 010, JAPAN

来源：

JOURNAL OF PEDIATRICS | 1993年 / 123卷 / 01期

关键词：

D O I：

10.1016/S0022-3476(05)81550-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 13-year old girl with early-onset, mild, slowly progressive mental retardation caused by nonketotic hyperglycinemia is described. The plasma and cerebrospinal fluid glycine concentrations were elevated, but the cerebrospinal fluid/plasma glycine ratio was only mildly elevated. The diagnosis was confirmed by demonstration of a defect in the activity of the glycine cleavage system in cultured lymphoblasts.

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页码：100 / 102

页数：3

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