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

Stephen L. Nelson, Jr, MD, PhD


September 18, 2020

Centrally acting dopamine antagonists have the potential to worsen symptoms of dopamine deficiency and should be avoided in patients with AADC deficiency.

There is no cure for AADC deficiency, and current treatments aim to manage symptoms, although their supporting evidence is poor. Selective dopamine agonists, monoamine oxidase inhibitors, and pyridoxine are the recommended first-line treatment options for patients with AADC deficiency. Additional supportive agents include anticholinergic agents, melatonin, benzodiazepines, and alpha-adrenoreceptor blockers.

Gene therapy is also currently under investigation for the treatment of AADC deficiency. Although improvements in motor and mental function have been reported in a limited number of patients, further research is needed before this approach can be recommended.

Learn more about AADC deficiency treatment.


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