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

Stephen L. Nelson, Jr, MD, PhD


September 18, 2020

The enzyme aromatic L-amino acid decarboxylase (AADC) is involved in the synthesis of neurotransmitters. AADC deficiency is an ultra-rare disorder caused by autosomal recessive mutations in the DDC gene. Patients born with AADC deficiency may be asymptomatic at birth, but then, usually within the first year of life, will experience hypotonia, movement disorders, developmental delay, and autonomic symptoms, such as oculogyric crises. Many patients do not survive past childhood. Although there is no cure yet for AADC deficiency, treatments are available to manage symptoms and gene therapy is currently under investigation.

How much do you know about the diagnosis and management AADC deficiency? Test your knowledge with this quick quiz.


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