2-羟基戊二酸尿症：1例D-异构体型婴儿病例报告并文献复习

2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature.

作者信息

Geerts Y, Renier W O, Bakkeren J, de Jong J

机构信息

Department of Child Neurology, University Hospital of Nijmegen, The Netherlands.

出版信息

J Neurol Sci. 1996 Nov;143(1-2):166-9. doi: 10.1016/s0022-510x(96)00179-7.

DOI:10.1016/s0022-510x(96)00179-7

PMID:8981317

Abstract

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 seems to be more severe than this of the L-form.

摘要

我们报告了一名患有D-2-羟基戊二酸尿症的婴儿，该婴儿出现了严重癫痫发作和发育迟缓。我们查阅了关于2-羟基戊二酸尿症的文献，发现另外还有6例D异构体患者和24例L异构体患者。尽管这种先天性代谢缺陷的临床谱是可变的，但D型的临床病程似乎比L型更严重。