Aromatic L-amino acid decarboxylase deficiency
ICD-10 Code
E70.81
Aromatic L-amino acid decarboxylase deficiency
Definition
Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
Also known as AADC deficiency, aromatic L-amino acid decarboxylase deficiency, aromatic L-amino-acid decarboxylase deficiency — per MONDO