Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

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Dr. Irina Anselm, MD, Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program at Boston Children's Hospital discusses the ultra rare brain disorder of aromatic l-amino acid decarboxylase (AADC) deficiency, the symptoms, and disease burden. Patients with severe AADC deficiency have a high risk of death during childhood and there are currently no approved therapies that address the underlying cause. She talks about her work with families coping with AADC and the importance of the AADC Awareness Day, October 23, that shares resources to help families who face this devastating disease. Massachusetts will be the first state to sign a proclamation to officially declare this as an awareness day.

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