Open AccessTriacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review
Author(s) -
Frederick Aliya,
Sherer Kimberly,
Nguyen Linda,
Ali Shawn,
Garg Anupam,
Haas Richard,
Sahagian Michelle,
Bui Jonathan
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51257
Subject(s) - medicine , epilepsy , encephalopathy , refractory (planetary science) , pediatrics , autism , intellectual disability , bioinformatics , psychiatry , biology , astrobiology
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.