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( Jing Wang ),( Wei Chen ),( Fang Wang ),( Dong Wu ),( Jia Ming Qian ),( Jun Ren Kang ),( Hai Long Li ),( En Ling Ma ) 한국임상영양학회 2015 Clinical Nutrition Research Vol.4 No.2
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 longterm 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.