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-methyl-glutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.
|Number of pages||3|
|Journal||Journal of Child Neurology|
|State||Published - May 12 2001|
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health