Levodopa and Carbidopa SR deficiency is currently being treated using a combination therapy of levodopa and carbidopa. These treatments are also used for individuals suffering from Parkinson's. The treatment is noninvasive and only requires the patient to take oral tablets 3 or 4 times a day, where the dosage of levodopa and carbidopa is determined by the severity of the symptoms. Levodopa is in a class of medications called central nervous system agents where its main function is to become dopamine in the brain. Carbidopa is in a class of medications called decarboxylase inhibitors and it works by preventing levodopa from being broken down before it reaches the brain. This treatment is effective in mitigating motor symptoms, but it does not totally eradicate them and it is not as effective on cognitive problems. Patients who have been diagnosed with SR deficiency and have undergone this treatment have shown improvements with most motor impairments including oculogyric crises, dystonia, balance, and coordination.
Sepiapterin reductase deficiency
Enolase deficiency
Holocarboxylase synthetase deficiency
Ornithine translocase deficiency
Carbamoyl phosphate synthetase I deficiency
Malonyl-CoA decarboxylase deficiency
Glutathione synthetase deficiency
Mevalonate kinase deficiency