Clinical Nutrition Research  2015;4(2):132-136

doi:10.7762/cnr.2015.4.2.132

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

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

Affiliations

+expand

Keywords

Mitochondrial neurogastrointestinal encephalopathy syndrome; TYMP gene; Nutrition therapy; Complications

Country

Republic 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.