Department of Neurosciences, University of California San Diego, San Diego, California, USA.
Rady Children's Hospital, San Diego, California, USA.
Ann Clin Transl Neurol. 2021 Jan;8(1):284-287. doi: 10.1002/acn3.51257. Epub 2020 Nov 29.
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.
遗传性代谢缺陷患者常出现难治性癫痫和脑病。我们报告了一例 8 岁女孩，有发育迟缓、自闭症和难治性癫痫病史，发现其 CAD 存在致病性变异。我们简要回顾了 CAD 的生化途径，以及提示尿苷补充可以挽救 CAD 缺乏表型的临床前和临床研究。我们的病例表明，使用三乙酰尿苷（TAU）治疗难治性癫痫的起效时间相对较晚，TAU 是一种已获 FDA 批准的用于治疗遗传性乳清酸尿症的药物。
