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A Treatable Genetic Disease Caused by CAD Mutation

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...

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Detalles Bibliográficos
Autores principales: Peng, Xia, Xia, Li-ping, Zhang, Hai-ju, Zhang, Jing, Yu, Shi-qian, Wang, Shun, Xu, Yu-ming, Yao, Baozhen, Ye, Jingping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959624/
https://www.ncbi.nlm.nih.gov/pubmed/35356445
http://dx.doi.org/10.3389/fped.2022.771374
Descripción
Sumario: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.