Mitochondrial complex I deficiency
Mitochondrial complex I deficiency
Definition
A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.
Also known as complex 1 mitochondrial respiratory chain deficiency, isolated complex I deficiency, isolated mitochondrial respiratory chain complex I deficiency, isolated NADH-coenzyme Q reductase deficiency, isolated NADH-CoQ reductase deficiency, isolated NADH-ubiquinone reductase deficiency, mitochondrial respiratory chain complex I deficiency, NADH coenzyme Q reductase deficiency — per MONDO