Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency

Stephen L. Nelson, Jr, MD, PhD

Disclosures

September 18, 2020

Figure 1. DNA mutation, conceptual image.

Fewer than 150 cases of AADC deficiency have been reported in the literature. Many of the reported patients are Asian. It is known that there is an increased prevalence of AADC deficiency in individuals of southern Chinese descent, particularly from Taiwan and Japan, due to the founder variant IVS 6+4A>T.

Learn more about the prevalence of AADC deficiency.

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