2-hydroxyglutaric aciduria: A case report on an infant with the D-isomeric form with review of the literature

被引：13

作者：

Geerts, Y

Renier, WO

Bakkeren, J

deJong, J

机构：

[1] UNIV NIJMEGEN HOSP,DEPT CHILD NEUROL,NL-6500 HB NIJMEGEN,NETHERLANDS

[2] UNIV NIJMEGEN HOSP,LAB PEDIAT & NEUROL,NL-6500 HB NIJMEGEN,NETHERLANDS

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1996年 / 143卷 / 1-2期

关键词：

early infantile epilepsy; psychomotor delay; inborn error of metabolism; hydroxyglutaric aciduria;

D O I：

10.1016/S0022-510X(96)00179-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report on an infant with D-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental delay. We reviewed the literature for 2-hydroxyglutaric aciduria and found six other patients with the D-isomer and 24 patients with the L-isomer. Although the clinical spectrum of this inborn error of metabolism is variable, the clinical course of the D-form stems to he more seven than this of the L-form.

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收藏

页码：166 / 169

页数：4

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