Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is characterized by significant gastrointestinal dysmotility. Early and long-term nutritional therapy is highly recommended. We report a case of MNGIE in a patient who was undergoing long-term nutrition therapy. The patient was diagnosed wit...

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Autores principales: Wang, Jing, Chen, Wei, Wang, Fang, Wu, Dong, Qian, Jiaming, Kang, Junren, Li, Hailong, Ma, Enling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Clinical Nutrition 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418417/
https://www.ncbi.nlm.nih.gov/pubmed/25954734
http://dx.doi.org/10.7762/cnr.2015.4.2.132
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author Wang, Jing
Chen, Wei
Wang, Fang
Wu, Dong
Qian, Jiaming
Kang, Junren
Li, Hailong
Ma, Enling
author_facet Wang, Jing
Chen, Wei
Wang, Fang
Wu, Dong
Qian, Jiaming
Kang, Junren
Li, Hailong
Ma, Enling
author_sort Wang, Jing
collection PubMed
description Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is characterized by significant gastrointestinal dysmotility. Early and long-term nutritional therapy is highly recommended. We report a case of MNGIE in a patient who was undergoing long-term nutrition therapy. The patient was diagnosed with a serious symptom of fatty liver and hyperlipidemia complications, along with homozygous mutation of the thymidine phosphorylase (TYMP) gene (c.217G > A). To our knowledge, this is the first report of such a case. Herein, we describe preventive measures for the aforementioned complications and mitochondrial disease-specific nutritional therapy.
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spelling pubmed-44184172015-05-07 Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene Wang, Jing Chen, Wei Wang, Fang Wu, Dong Qian, Jiaming Kang, Junren Li, Hailong Ma, Enling Clin Nutr Res Case Report Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is characterized by significant gastrointestinal dysmotility. Early and long-term nutritional therapy is highly recommended. We report a case of MNGIE in a patient who was undergoing long-term nutrition therapy. The patient was diagnosed with a serious symptom of fatty liver and hyperlipidemia complications, along with homozygous mutation of the thymidine phosphorylase (TYMP) gene (c.217G > A). To our knowledge, this is the first report of such a case. Herein, we describe preventive measures for the aforementioned complications and mitochondrial disease-specific nutritional therapy. The Korean Society of Clinical Nutrition 2015-04 2015-01-16 /pmc/articles/PMC4418417/ /pubmed/25954734 http://dx.doi.org/10.7762/cnr.2015.4.2.132 Text en © 2015 The Korean Society of Clinical Nutrition http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Wang, Jing
Chen, Wei
Wang, Fang
Wu, Dong
Qian, Jiaming
Kang, Junren
Li, Hailong
Ma, Enling
Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene
title Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene
title_full Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene
title_fullStr Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene
title_full_unstemmed Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene
title_short Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene
title_sort nutrition therapy for mitochondrial neurogastrointestinal encephalopathy with homozygous mutation of the tymp gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418417/
https://www.ncbi.nlm.nih.gov/pubmed/25954734
http://dx.doi.org/10.7762/cnr.2015.4.2.132
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