3-hydroxylacyl-coa dehydrogenase deficiency

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.

Disease Alternative Name

isobutyryl-coa dehydrogenase deficiency
MainRecentTopDoctors

Trending Cases