nuclear type mitochondrial complex I deficiency 20

Term ID

DOID:0112072

Synonyms

• ACAD9 deficiency
• Acyl-CoA dehydrogenase 9 deficiency
• MC1DN20
• mitochondrial complex 1 deficiency due to ACAD9 deficiency

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. (3)

References

• MESH:C567006
• OMIM:611126
• ORDO:99901
• SNOMEDCT_US_2023_03_01:725046003
• UMLS_CUI:C1970173

Ontology

Human Disease   ( DOID:0112072 )