Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management

Centrally acting dopamine antagonists may worsen symptoms of dopamine deficiency and, hence, should be avoided in patients with AADC deficiency.

There is no cure for AADC deficiency. Current treatments aim to manage symptoms, although their supporting evidence is limited owing to the small number of affected patients. Selective dopamine agonists, monoamine oxidase inhibitors, and pyridoxine are recommended first-line treatment options for patients with AADC deficiency. Additional supportive agents include anticholinergic agents, melatonin, benzodiazepines, and alpha-adrenoreceptor blockers. Concurrently supportive therapeutic approaches, such as physiotherapy, occupational therapy, and speech therapy, are strongly encouraged.

Gene therapy is also currently under investigation for the treatment of AADC deficiency. Improvements in motor and mental function have been noted in a limited number of patients; however, further research on this treatment modality is needed before this approach can be recommended.

Learn more about AADC deficiency treatment.

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Cite this: Stephen L. Nelson, Germaine L. Defendi. Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management - Medscape - Feb 07, 2022.