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

Stephen L. Nelson, Jr, MD, PhD


September 18, 2020

Generally speaking, therapy with multiple drugs will be needed for patients with AADC deficiency. When titrating doses, each drug should be titrated individually and sequentially. A stepwise approach to treatment should be used, starting low and going slow when increasing dosages. Patients should discontinue or be weaned off of any medications that are not helpful. In addition, initiation of therapy should not be dependent on genetic testing results because the results of CSF analysis and plasma AADC activity are generally available well before the results of genetic testing.

Learn more about AADC deficiency treatment.


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