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

Stephen L. Nelson, Jr, MD, PhD; Germaine L. Defendi, MD, MS, FAAP


February 07, 2022

Multi-drug therapy is recommended for patients with AADC deficiency. When titrating doses, each drug should be titrated individually and sequentially. A stepwise approach to treatment should be used, slowly adjusting the dose of a medication to achieve maximum benefit without adverse effects. Medications that do not aid in clinical improvement should be weaned off or discontinued. In addition, treatment initiation should not depend on genetic testing results; the results of CSF analysis and plasma AADC activity are generally available earlier than the results of molecular testing.

Learn more about AADC deficiency treatment.


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