ACAD8

The ACAD8 gene provides instructions for making an enzyme called isobutyryl-coenzyme A (CoA) dehydrogenase. This enzyme is found in mitochondria, the energy-producing centers inside cells. Isobutyryl-CoA dehydrogenase plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for a step in the breakdown of valine, an amino acid that is a building block of many proteins. This step is a chemical reaction that converts a molecule called isobutyryl-CoA into another molecule called succinyl-CoA. Additional chemical reactions further break down succinyl-CoA to supply cells with energy.

isobutyryl-coenzyme A dehydrogenase deficiency - caused by mutations in the ACAD8 gene

At least four mutations in the ACAD8 gene that cause isobutyryl-CoA dehydrogenase deficiency have been identified. Some of these mutations disrupt the normal function of the enzyme, while other mutations prevent the gene from producing any functional enzyme. As a result of low enzyme levels, the body is unable to break down valine properly. An inability to process valine may lead to reduced energy production, poor growth and feeding, and other symptoms of isobutyryl-CoA dehydrogenase deficiency.