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

被引：9

作者：

Scaglia, F

Sutton, VR

Bodamer, OAF

Vogel, H

Shapira, SK

Naviaux, RK

Vladutiu, GD

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Pathol & Pediat, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[4] Univ Calif San Diego, Sch Med, Mitochondrial & Metab Dis Ctr, San Diego, CA 92103 USA

[5] Univ Buffalo, Dept Pediat, Sch Med & Biomed Sci, Childrens Hosp Buffalo, Buffalo, NY 14222 USA

来源：

JOURNAL OF CHILD NEUROLOGY | 2001年 / 16卷 / 02期

关键词：

D O I：

10.1177/088307380101600214

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：136 / 138

页数：3

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