与部分复合体II和IV缺陷以及3-甲基戊二酸尿症相关的线粒体DNA耗竭

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.

作者信息

Scaglia F, Sutton V R, Bodamer O A, Vogel H, Shapira S K, Naviaux R K, Vladutiu G D

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

出版信息

J Child Neurol. 2001 Feb;16(2):136-8. doi: 10.1177/088307380101600214.

DOI:10.1177/088307380101600214

PMID:11292221

Abstract

We report a patient with mitochondrial DNA depletion, partial complex II and IV deficiencies, and 3-methylglutaconic aciduria. Complex II deficiency has not been previously observed in mitochondrial DNA depletion syndromes. The observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.

摘要

我们报告了一名患有线粒体DNA耗竭、部分复合体II和IV缺陷以及3-甲基戊二酸尿症的患者。此前在线粒体DNA耗竭综合征中尚未观察到复合体II缺陷。3-甲基戊二酸尿症和3-甲基戊二酸血症的发现可能是线粒体DNA耗竭导致呼吸链功能缺陷的一个有用指标。