AADC Deficiency
AADC deficiency, or Aromatic L-amino acid decarboxylase deficiency, is a rare genetic disorder that affects the production of certain neurotransmitters in the brain. This condition is caused by mutations in the DDC gene, which is responsible for producing the enzyme needed to convert specific amino acids into neurotransmitters like dopamine and serotonin.
Individuals with AADC deficiency may experience a range of symptoms, including developmental delays, movement disorders, and difficulties with muscle control. Treatment options are limited and often focus on managing symptoms, as there is currently no cure for this condition. Early diagnosis and supportive care can help improve the quality of life for affected individuals.