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A Patient With CAD Deficiency Responsive to Uridine and Literature Review
CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis, and pyrimidine can be alternatively recycled from uridine. Trio whole-exome sequencing identified CAD compound heterozygous mutations in a new male patient with global developmental delay (DD), refractory epilepsy, and...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012989/ https://www.ncbi.nlm.nih.gov/pubmed/32117025 http://dx.doi.org/10.3389/fneur.2020.00064 |
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author | Zhou, Ling Xu, Han Wang, Tianshuang Wu, Ye |
author_facet | Zhou, Ling Xu, Han Wang, Tianshuang Wu, Ye |
author_sort | Zhou, Ling |
collection | PubMed |
description | CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis, and pyrimidine can be alternatively recycled from uridine. Trio whole-exome sequencing identified CAD compound heterozygous mutations in a new male patient with global developmental delay (DD), refractory epilepsy, and anemia with anisopoikilocytosis. We further reviewed all published cases with CAD deficiency. Five patients were collected from two publications, including three males and two females, and all presented with DD, drug-resistant epilepsy, and anemia with anisopoikilocytosis. Four out of six patients (including the present case) were supplemented with uridine, which led to immediate cessation of seizures, resolved anemia with anisopoikilocytosis, and progress in global development. The other two patients, who were not treated with uridine, died at the ages of 4 and 5 years. In summary, CAD deficiency is probably a treatable neurometabolic disorder. |
format | Online Article Text |
id | pubmed-7012989 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-70129892020-02-28 A Patient With CAD Deficiency Responsive to Uridine and Literature Review Zhou, Ling Xu, Han Wang, Tianshuang Wu, Ye Front Neurol Neurology CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis, and pyrimidine can be alternatively recycled from uridine. Trio whole-exome sequencing identified CAD compound heterozygous mutations in a new male patient with global developmental delay (DD), refractory epilepsy, and anemia with anisopoikilocytosis. We further reviewed all published cases with CAD deficiency. Five patients were collected from two publications, including three males and two females, and all presented with DD, drug-resistant epilepsy, and anemia with anisopoikilocytosis. Four out of six patients (including the present case) were supplemented with uridine, which led to immediate cessation of seizures, resolved anemia with anisopoikilocytosis, and progress in global development. The other two patients, who were not treated with uridine, died at the ages of 4 and 5 years. In summary, CAD deficiency is probably a treatable neurometabolic disorder. Frontiers Media S.A. 2020-02-05 /pmc/articles/PMC7012989/ /pubmed/32117025 http://dx.doi.org/10.3389/fneur.2020.00064 Text en Copyright © 2020 Zhou, Xu, Wang and Wu. http://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 | Neurology Zhou, Ling Xu, Han Wang, Tianshuang Wu, Ye A Patient With CAD Deficiency Responsive to Uridine and Literature Review |
title | A Patient With CAD Deficiency Responsive to Uridine and Literature Review |
title_full | A Patient With CAD Deficiency Responsive to Uridine and Literature Review |
title_fullStr | A Patient With CAD Deficiency Responsive to Uridine and Literature Review |
title_full_unstemmed | A Patient With CAD Deficiency Responsive to Uridine and Literature Review |
title_short | A Patient With CAD Deficiency Responsive to Uridine and Literature Review |
title_sort | patient with cad deficiency responsive to uridine and literature review |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012989/ https://www.ncbi.nlm.nih.gov/pubmed/32117025 http://dx.doi.org/10.3389/fneur.2020.00064 |
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