title: Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene.
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. 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.
authors.affiliation: Department of Clinical Nutrition, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Parenteral and Enteral, Peking Union Medical School Hospital, Beijing 100730, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.affiliation: Department of Public Health, Food Study and Nutrition, Syracuse University, Syracuse, NY 13244, USA.
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Gastroenterology, Peking Union Medical School Hospital, Beijing 100730, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.affiliation: Department of Gastroenterology, Peking Union Medical School Hospital, Beijing 100730, China.
authors.forename: Jiaming
authors.initials: J
authors.lastname: Qian
authors.affiliation: Department of Parenteral and Enteral, Peking Union Medical School Hospital, Beijing 100730, China.
authors.forename: Junren
authors.initials: J
authors.lastname: Kang
authors.affiliation: Department of Parenteral and Enteral, Peking Union Medical School Hospital, Beijing 100730, China.
authors.forename: Hailong
authors.initials: H
authors.lastname: Li
authors.affiliation: Department of Parenteral and Enteral, Peking Union Medical School Hospital, Beijing 100730, China.
authors.forename: Enling
authors.initials: E
authors.lastname: Ma
keywords: Complications; Mitochondrial neurogastrointestinal encephalopathy syndrome; Nutrition therapy; TYMP gene