Frontiers in Pediatrics (Mar 2022)

A Treatable Genetic Disease Caused by CAD Mutation

  • Xia Peng,
  • Li-ping Xia,
  • Hai-ju Zhang,
  • Jing Zhang,
  • Shi-qian Yu,
  • Shun Wang,
  • Yu-ming Xu,
  • Baozhen Yao,
  • Jingping Ye

DOI
https://doi.org/10.3389/fped.2022.771374
Journal volume & issue
Vol. 10

Abstract

Read online

Type 50 early infantile epileptic encephalopathy, or EIEE-50 for short, is an autosomal recessive genetic disorder resulting from CAD mutations. So far, little has been reported on the disease. In this article, we will discuss the case of a male infant who is 8 years and 5 months old. A whole-exome sequencing of the boy revealed CAD compound heterozygous mutations. He suffered from global developmental delay and regression, refractory epilepsy, and anemia. After his diagnosis, we used uridine treatment and gained encouraging results. In this article, we will analyze our case studies in the context of the literature, so as to improve pediatricians' understanding of the disease.

Keywords