Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review

payt.helady61 shared this article with you from Inoreader Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review Via Annals of Clinical and Translational Neurology 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. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.