Triacetyluridine Treats Epileptic Encephalopathy from CAD Mutations: a Case Report and Review

Overview

Journal Ann Clin Transl Neurol

Specialty Neurology

Date 2020 Nov 29

PMID 33249780

Citations 4

Authors

Aliya Frederick

Kimberly Sherer

Linda Nguyen

Shawn Ali

Anupam Garg

Richard Haas

Michelle Sahagian

Jonathan Bui

Affiliations

Soon will be listed here.

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.

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