Irina Anselm, MD, from Boston Children’s Hospital provides an overview of treatment options for aromatic L-amino acid decarboxylase (AADC) deficiency.
AADC deficiency is a rare neurodegenerative disease caused by a defect in the dopa decarboxylase (DDC) gene that leads to decreased synthesis of neurotransmitters such as dopamine, norepinephrine, epinephrine, and melatonin.
As Dr. Anselm explains in this video, current therapies are fairly limited to dopamine agonists, MAO inhibitors, and treatments to help with symptoms.
A gene therapy is currently underway for this devastating condition.
For more information about AADC deficiency, visit checkrare.com/aadc-deficiency/