Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)

Stephen L. Nelson, Jr, MD, PhD


August 05, 2021

Recommended first-line treatment options for AADC deficiency include dopamine agonists, monoamine oxidase inhibitors, and pyridoxine, although there is low evidence in general for outcomes with any treatment option. Non–ergot-derived dopamine agonists are preferred over ergot-derived agonists due to concerns about cardiac fibrosis.

Additional therapies to consider include anticholinergic agents, which may address autonomic symptoms, dystonia, and oculogyric crises. Melatonin should be considered when sleep disturbances are an issue. Benzodiazepines may be considered for intermittent use in specific settings, such as for sustained oculogyric or dystonic crises.

Gene therapy is currently under investigation for the treatment of AADC deficiency, with patient recruitment ongoing for clinical trials patients in Taiwan, Japan, the United States, and Europe. Although improvements in motor and mental function have been reported in limited numbers of patients, further research is needed before this approach can be recommended.

Learn more about treating patients with AADC deficiency.


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