Aromatic L-amino acid decarboxylase deficiency
| Aromatic L-amino acid decarboxylase deficiency | |
|---|---|
| Other names | AADC deficiency |
| Specialty | Neurology |
| Symptoms | Dystonia, oculogyric crises, developmental delay, parkinsonism, dysautonomia |
| Usual onset | Infancy |
| Causes | Autosomal recessive DDC mutation |
| Diagnostic method | Lumbar puncture for neurotransmitter analysis; enzyme assay; genetic testing |
Aromatic L-amino acid decarboxylase deficiency, also known as AADC deficiency, is a rare genetic disorder caused by mutations in the DDC gene, which encodes an enzyme called aromatic L-amino acid decarboxylase.