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

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.

Automated summary

This case report presents an 8-year-old girl with developmental delay, autism, and intractable epilepsy found to have a pathogenic variant in the CAD gene. The patient exhibited a rapid response to treatment with the uridine pro-drug triacetyluridine (TAU), suggesting a potential new approach for treating refractory epilepsy.