3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
case_report · Level V
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Abstract
3-Methylglutaconic aciduria was detected in four patients with Pearson syndrome, a multitissue disorder with hematologic abnormalities, lactic acidosis resulting from defective oxidative phosphorylation, and deletions in the mitochondrial genome. 3-Methylglutaconic acid may be an additional useful marker for Pearson syndrome and may be a more specific marker than other organic acids identified in this disorder.
Medical subject headings
- Acidosis, Lactic
- Anemia, Aplastic
- Glutarates
- Neutropenia
- Thrombocytopenia