Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.
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.
Scaglia
F
F
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. fscaglia@bcm.tmc.edu
Sutton
V R
VR
Bodamer
O A
OA
Vogel
H
H
Shapira
S K
SK
Naviaux
R K
RK
Vladutiu
G D
GD
D001706:Biopsy; D015139:Blotting, Southern; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000032:analysis*; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male; D015093:Meglutol / Q000031:analogs & derivatives* / Q000652:urine*; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000235:genetics* / Q000652:urine*; D018482:Muscle, Skeletal / Q000473:pathology
D004272:DNA, Mitochondrial; D005977:Glutarates; C033686:3-methylglutaric acid; C022034:3-methylglutaconic acid; D015093:Meglutol