This enzyme is involved in the metabolism of the amino acid valine. Mutations in this enzyme result in the accumulation of methacrylic acid. When this acid is acetylated, it is very reactive with free sulfhydryl groups. When the levels of this enzymes are too low valine levels increase, particularly in the mitochondria. How this produces the clinical picture is not yet clear.
3-Hydroxyisobutyryl-CoA deacylase deficiency
Malonyl-CoA decarboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Pyruvate kinase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
2,4 Dienoyl-CoA reductase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency