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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

GARD:3908

MESH:C537475

OMIM:252010

ORDO:2609

UMLS_CUI:C1838979

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

is_a mitochondrial metabolism disease

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