Aromatic L-Amino-Acid Decarboxylase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the DDC gene, encoding aromatic-L-amino-acid decarboxylase. It is characterized by combined serotonin and catecholamine deficiency, resulting in severe neurologic dysfunction usually beginning in infancy or childhood.

**Synonyms:** - AADC Deficiency