There are no cures for ACOX1 deficiency, supportive care is used to manage specific clinical symptoms for affected individuals. Treatment is based upon symptoms, with the aim the provide some relief. Pharmacologic agents are used to help improve muscle tone (management of dystonia) and to block neurological signalling to the muscle. Physical therapy is used to improve movement and function. For the specific treatment of recurrent seizures, there are both pharmaceutical and surgical options.
Acyl-CoA oxidase deficiency
2,4 Dienoyl-CoA reductase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Multiple carboxylase deficiency
Carnitine-acylcarnitine translocase deficiency
Pyruvate kinase deficiency
Malonyl-CoA decarboxylase deficiency