Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

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.

Irina A. Anselm, MD, is Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program at Boston Children’s Hospital. A pediatric neurologist with special interest in genetics and hereditary disorders, she cares for children with neurometabolic, neurodegenerative, and mitochondrial disorders. She serves as the Department of Neurology’s clinical expert for Boston Children’s Precision Medicine Service. Her research focuses on the genetics, diagnosis, and management of these disorders, which range from mild to devastating. She has a special interest in disorders of neurotransmitter metabolism and works closely with a company that developed gene therapy for one of these disorders. Major publications include 35 original reports in peer-reviewed journals and 4 chapters, and she is a reviewer for the Journal of Pediatric Neurology, Current Pediatric Reviews, and the Journal of Child Neurology. Specifically, Dr. Anselm works with families coping with AADC Deficiency and stresses the importance of genetic testing for children; as well as the importance of the awareness day to families, caregivers and physicians like herself.