Clin Nutr Res.
2015 Apr;4(2):132-136. 10.7762/cnr.2015.4.2.132.
Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene
- Affiliations
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- 1Department of Clinical Nutrition, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, China.
- 2Department of Parenteral and Enteral, Peking Union Medical School Hospital, Beijing 100730, China. txchenwei@sina.com
- 3Department of Public Health, Food Study and Nutrition, Syracuse University, Syracuse, NY 13244, USA.
- 4Department of Gastroenterology, Peking Union Medical School Hospital, Beijing 100730, China.
- KMID: 2279359
- DOI: http://doi.org/10.7762/cnr.2015.4.2.132
Abstract
- 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. He 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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