nuclear type mitochondrial complex I deficiency 20 (DOID:0112072)
Alliance: disease page
Synonyms: ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency; MC1DN20; mitochondrial complex 1 deficiency due to ACAD9 deficiency
Alt IDs: OMIM:611126, MESH:C567006, ORDO:99901, UMLS_CUI:C1970173
Definition: A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.