| Modification Notes |
ACAD-8 (Acyl-CoA dehydrogenase family member 8), also known as Isobutyryl-CoA dehydrogenase (IBD) or activator-recruited cofactor 42 kDa component (ARC42), consists of an N-terminal å-helical domain, a ∫-sheet domain and another å-helical domain at the C-terminal. The ACAD family of enzymes are involved in the catabolism of fatty acids and amino acids. They provide a major source of energy for the heart and skeletal muscle. ACAD-8 is a mitochondrial flavoprotein involved in valine degradation. It is responsible for converting isobutyryl-CoA to methacrylyl-CoA. ACAD-8 localizes to the mitochondrial matrix and exists as a homotetramer. Deficiency of ACAD-8 results in carnitine deficiency, dilated cardiomyopathy, and formula feeding intolerance. The excretion of isobutyryl-glycine in urine is a sign of an ACAD-8 related defect. |