Fast Five Quiz: Aromatic L-amino Acid Decarboxylase Deficiency (AADCD) Clinical Characteristics

Stephen L. Nelson, Jr, MD, PhD

Disclosures

August 13, 2021

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a disorder of the pathogenic DDC gene, which encodes the AADC enzyme. AADCD is a rare, autosomal recessive neurometabolic disorder characterized by a severe deficiency of serotonin, dopamine, norepinephrine, and epinephrine. Fewer than 150 cases have been described in the literature to date. There is an increased prevalence in patients of southern Chinese descent, particularly those from Taiwan and Japan. Onset is usually during infancy.

The two most common symptoms of AADCD are hypotonia in the trunk and oculogyric crises. In addition, dysfunction of the autonomic nervous system can lead to symptoms such as hypersalivation, ptosis, nasal congestion, temperature instability, hypotension, and hypoglycemia. AADCD should be considered in children with hypotonia, movement disorders, developmental delay, excessive sweating, and autonomic symptoms without other plausible causes of such characteristics.

How much do you know about the clinical characteristics of AADCD deficiency? Test your knowledge with this quick quiz.

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.

processing....