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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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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. |
format | Online Article Text |
id | pubmed-8959624 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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