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

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

doi:10.1177/088307380101600214

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

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

Authors

F Scaglia¹, V R Sutton, O A Bodamer, H Vogel, S K Shapira, R K Naviaux, G D Vladutiu

Affiliation

¹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. fscaglia@bcm.tmc.edu

PMID: 11292221
DOI: 10.1177/088307380101600214

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Biopsy
Blotting, Southern
Child, Preschool
DNA, Mitochondrial / analysis*
Glutarates / urine*
Humans
Infant
Male
Meglutol / analogs & derivatives*
Meglutol / urine*
Mitochondrial Encephalomyopathies / complications
Mitochondrial Encephalomyopathies / genetics*
Mitochondrial Encephalomyopathies / urine*
Muscle, Skeletal / pathology

Substances

DNA, Mitochondrial
Glutarates
3-methylglutaric acid
3-methylglutaconic acid
Meglutol