Triacetyluridine treats epileptic encephalopathy from <i>CAD</i> mutations: a case report and review
Aliya Frederick, Kimberly Sherer, Linda Nguyen, Shawn Ali, Anupam Garg, Richard Haas, Michelle Sahagian, Jonathan D. Bui
Abstract
Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8-year-old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the biochemical pathway of CAD and the preclinical and clinical studies that suggest uridine supplementation can rescue the CAD deficiency phenotypes. Our case demonstrates a relatively late-onset case of refractory epilepsy with a rapid response to treatment using the uridine pro-drug triacetyluridine (TAU), the FDA-approved treatment for hereditary orotic aciduria.