mitochondrial complex I deficiency

Rare Disease

MONDO:0100133

Also Known As

NADH coenzyme Q reductase deficiencycomplex 1 mitochondrial respiratory chain deficiencyisolated NADH-CoQ reductase deficiencyisolated NADH-coenzyme Q reductase deficiencyisolated NADH-ubiquinone reductase deficiencyisolated complex I deficiencyisolated mitochondrial respiratory chain complex I deficiencymitochondrial respiratory chain 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.