While methylmalonic acidemia has a variety of causes, both genetic and dietary,<unk>  is an autosomal recessive genetic disorder. Patients suffering from the deficiency either have a complete gene lesion, designated as mut0 or a partial mutation in the form of a frameshift designated as mut-. This frameshift affects the folding of the enzyme rendering its binding domain less effective. Patients with a complete deletion suffer an inactivation of<unk>  CoA<unk>  and exhibit the most severe symptoms of the deficiency, while patients with a partial mutations have a wide range of symptoms. Over 49 different mutations have been discovered for the MUT gene, yet only two appear in any discernible frequency.
Methylmalonyl-CoA mutase deficiency
Malonyl-CoA decarboxylase deficiency
Pyruvate kinase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Ornithine aminotransferase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Carbamoyl phosphate synthetase I deficiency