mitochondrial complex I deficiency

Term ID

DOID:0060536

Synonyms

• isolated mitochondrial respiratory chain complex I deficiency
• isolated NADH-coenzyme Q reductase deficiency
• isolated NADH-CoQ reductase deficiency
• isolated NADH-ubiquinone reductase 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

References

• GARD:3908
• MESH:C537475
• OMIM:252010
• ORDO:2609
• SNOMEDCT_US_2023_03_01:237988006
• UMLS_CUI:C1838979

Ontology

Human Disease   ( DOID:0060536 )