Fast Five Quiz: Aromatic L-amino Acid Decarboxylase Deficiency (AADCD) Clinical Characteristics

Stephen L. Nelson, Jr, MD, PhD


August 13, 2021

In general, first-line treatment agents for AADCD are selective dopamine agonists, MAO inhibitors, and pyridoxine. While MAO inhibitors are not associated with evidence of clear clinical benefit, a trial period of therapy is recommended from a biochemical perspective. Gene therapy is currently under investigation as a potential therapy.

Cabergoline and pergolide should not be used for the treatment of AADCD because they confer a high risk for fibrotic complications.

L-Dopa is a first-line treatment only for patients with L-Dopa binding-site variants. Patients with AADCD already have high levels of L-Dopa, and a sustained effect of therapy was seen in patients with the relevant binding-site variants. Similarly counterintuitive, 5-HTP has been used for AADCD therapy, but no studies have shown benefit and current recommendations advise against its use.

Centrally acting dopamine antagonists should be avoided because they may worsen dopamine deficiency.

Learn more about AADCD therapy.


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