Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency

• Main Authors: Ling Zhou (Author), Jie Deng (Author), Sarah L. Stenton (Author), Ji Zhou (Author), Hua Li (Author), Chunhong Chen (Author), Holger Prokisch (Author), Fang Fang (Author)
• 格式: 图书
• 出版: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

We present two unrelated Chinese patients with CAD deficiency manifesting with a triad of infantile-onset psychomotor developmental delay with regression, drug-refractory epilepsy, and anaemia with anisopoikilocytosis. Timely translation into uridine supplementation, within 2-months of disease onset...