Osmosis video - Aromatic L-amino acid decarboxylase deficiency (NORD)

Aromatic L-amino acid decarboxylase deficiency (AADC) is an autosomal recessive disorder caused by mutations in the Dopa Decarboxylase (DDC) gene. AADC is an enzyme involved in the synthesis of dopamine and serotonin, which are important neurotransmitters responsible for the communication among neurons. This condition is characterized by impaired cognitive development, decreased muscle tone, failure to thrive, abnormal eye movements, and a wide range of other neurologic symptoms.