Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)

Stephen L. Nelson, Jr, MD, PhD


August 05, 2021

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, with gene therapy representing a key direction in future research.

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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