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

Author: Jing WANG ¹ ; Wei CHEN ; Fang WANG ; Dong WU ; Jiaming QIAN ; Junren KANG ; Hailong LI ; Enling MA
Author Information

1. Department of Clinical Nutrition, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, China.
Publication Type:Case Report
Keywords: Mitochondrial neurogastrointestinal encephalopathy syndrome; TYMP gene; Nutrition therapy; Complications
MeSH: Fatty Liver; Humans; Hyperlipidemias; Nutrition Therapy*; Thymidine Phosphorylase
From:Clinical Nutrition Research 2015;4(2):132-136
CountryRepublic of Korea
Language:English
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.