Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency

Stephen L. Nelson, Jr, MD, PhD

Disclosures

September 18, 2020

The enzyme aromatic L-amino acid decarboxylase (AADC) is involved in the synthesis of neurotransmitters. Patients born with AADC deficiency, which is an ultrarare, autosomal recessive neurometabolic disorder, may be asymptomatic at birth but can experience nervous system disruptions, failure to thrive, hypotonia, and movement disorders, and many do not survive through childhood. Although there is currently no cure for AADC deficiency, treatments are available to manage symptoms, and gene therapy has shown some potential.

How much do you know about the prevalence, presentation, diagnosis, workup, and treatment of AADC deficiency? Test your knowledge with this quick quiz.

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