| Metadata | |
|---|---|
| ID | DOID:0060536 |
| Name | mitochondrial complex I deficiency |
| Definition | A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. http://www.omim.org/entry/252010 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237988006 |
| Subsets |
DO_rare_slim |
| Synonyms |
isolated mitochondrial respiratory chain complex I deficiency [EXACT] isolated NADH-coenzyme Q reductase deficiency [EXACT] isolated NADH-CoQ reductase deficiency [EXACT] isolated NADH-ubiquinone reductase deficiency [EXACT] |
| Parent Relationships |