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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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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
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author Peng, Xia
Xia, Li-ping
Zhang, Hai-ju
Zhang, Jing
Yu, Shi-qian
Wang, Shun
Xu, Yu-ming
Yao, Baozhen
Ye, Jingping
author_facet Peng, Xia
Xia, Li-ping
Zhang, Hai-ju
Zhang, Jing
Yu, Shi-qian
Wang, Shun
Xu, Yu-ming
Yao, Baozhen
Ye, Jingping
author_sort Peng, Xia
collection PubMed
description 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.
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spelling pubmed-89596242022-03-29 A Treatable Genetic Disease Caused by CAD Mutation Peng, Xia Xia, Li-ping Zhang, Hai-ju Zhang, Jing Yu, Shi-qian Wang, Shun Xu, Yu-ming Yao, Baozhen Ye, Jingping Front Pediatr Pediatrics 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. Frontiers Media S.A. 2022-03-09 /pmc/articles/PMC8959624/ /pubmed/35356445 http://dx.doi.org/10.3389/fped.2022.771374 Text en Copyright © 2022 Peng, Xia, Zhang, Zhang, Yu, Wang, Xu, Yao and Ye. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Peng, Xia
Xia, Li-ping
Zhang, Hai-ju
Zhang, Jing
Yu, Shi-qian
Wang, Shun
Xu, Yu-ming
Yao, Baozhen
Ye, Jingping
A Treatable Genetic Disease Caused by CAD Mutation
title A Treatable Genetic Disease Caused by CAD Mutation
title_full A Treatable Genetic Disease Caused by CAD Mutation
title_fullStr A Treatable Genetic Disease Caused by CAD Mutation
title_full_unstemmed A Treatable Genetic Disease Caused by CAD Mutation
title_short A Treatable Genetic Disease Caused by CAD Mutation
title_sort treatable genetic disease caused by cad mutation
topic Pediatrics
url 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
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