Aromatic amino acid decarboxylase deficiency [Supplementary Concept]

An autosomal recessive inborn error in neurotransmitter metabolism that leads to combined SEROTONIN and CATECHOLAMINE deficiency and is clinically characterized by vegetative symptoms, oculogyric crises, DYSTONIA, and severe neurologic dysfunction, usually beginning in infancy or childhood. Caused by mutations in the DDC gene. OMIM: 107930

Date introduced: August 25, 2010

MeSH Unique ID: C537437

Heading Mapped to:

• Amino Acid Metabolism, Inborn Errors
• Aromatic-L-Amino-Acid Decarboxylases/deficiency

Entry Terms:

• AADC deficiency Aromatic L-amino acid decarboxylase deficiency
• Aromatic L-amino acid decarboxylase deficiency
• Dopa decarboxylase deficiency
• DDC deficiency