Aromatic L-amino acid decarboxylase deficiency

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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.