There is currently no cure for<unk> , but medical and multidisciplinary treatment can relieve some of the symptoms. Patients will require physiotherapy, occupational therapy, and speech and<unk> anguage therapy. Some will need enteral feeding (for example, a gastrostomy or jejunostomy) due to difficulties with chewing and swallowing. Various medications can help compensate for the missing neurotransmitters. Dopamine agonists such as rotigotine or pramipexole and monoamine oxidase inhibitors such as selegiline are commonly used. Patients may also need to take a range of other medications to control dyskinesia, constipation and other symptoms. In July 2021 results of a small gene therapy phase 1 study has been published reporting observation of dopamine restoration on seven patients between 4 and 9 years old.
Aromatic L-amino acid decarboxylase deficiency
Arginine:glycine amidinotransferase deficiency
D-bifunctional protein deficiency
Beta-ketothiolase deficiency
Ornithine aminotransferase deficiency
Aldolase A deficiency
Short-chain acyl-coenzyme A dehydrogenase deficiency
Aminoacylase 1 deficiency