As part of the roundtable moderated by Philip Pearl, MD, of Boston Children’s Hospital and Harvard Medical School, the attendees of this virtual discussion focused on key diagnostic aspects of aromatic L-amino acid decarboxylase (AADC) deficiency.

Dr. Pearl noted that AADC deficiency was first described in 1990 by Drs. Keith Hyland and Peter Clayton, who saw identical twins with the disorder. They were able to document AADC deficiency, and this was linked to the DDC gene dysfunction.

Dr. Anselm recalled her first case of AADC deficiency, which appeared in a 17-year-old male in 1998. This young person had not been diagnosed appropriately at any point in his life until then. The entire AADC deficiency Panel Discussion can be viewed here.

This genetic disorder is extraordinarily rare, with a prevalence of around 1,800 persons globally. The estimated incidence of AADC deficiency varies quite a bit, depending on the country. However, only 130 cases have been reported in the literature. Many cases are undiagnosed and perhaps unreported, according to these subspecialists. The roundtable participants included:

Philip L. Pearl, MD
Director, Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital
William G. Lennox Chair and Professor of Neurology, Harvard Medical School
Boston, MA

Warren A. Marks, MD
Medical Director, Movement Disorders
Cook Children’s Jane and John Justin Neurosciences Center
Fort Worth, TX

Paul Wuh-Liang Hwu, MD, PhD
Professor, Department of Pediatrics and Medical Genetics
National Taiwan University Hospital
Tapei, Taiwan

Irina A. Anselm, MD
Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program, Boston Children’s Hospital
Assistant Professor of Neurology, Harvard Medical School
Boston, MA

Jennifer O’Malley, MD, PhD
Clinical Assistant Professor, Neurology & Neurological Sciences, Stanford Medicine
Pediatric Neurologist, Stanford Children’s Health
Stanford, CA