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-methyl-glutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.
Original language | English (US) |
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Pages (from-to) | 136-138 |
Number of pages | 3 |
Journal | Journal of child neurology |
Volume | 16 |
Issue number | 2 |
DOIs | |
State | Published - Jan 1 2001 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology