Acyl-CoA dehydrogenase 9 deficiency
Acyl-CoA dehydrogenase 9 deficiency
Definition
A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
Also known as ACAD9 deficiency, acyl-CoA dehydrogenase 9 deficiency, mitochondrial complex I deficiency due to ACAD9 deficiency, mitochondrial complex I deficiency, nuclear type 20 — per MONDO