Isobutyryl-CoA Dehydrogenase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An inherited condition caused by mutation(s) in the ACAD8 gene, encoding isobutyryl-CoA dehydrogenase, mitochondrial. It is characterized by decreased concentrations of carnitine in the blood, encephalopathy, dilated cardiomyopathy, and anemia.