TYMP基因纯合突变所致线粒体神经胃肠性脑肌病的营养治疗
Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene.
作者信息
Wang Jing, Chen Wei, Wang Fang, Wu Dong, Qian Jiaming, Kang Junren, Li Hailong, Ma Enling
机构信息
Department of Clinical Nutrition, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing 210008, China.
Department of Parenteral and Enteral, Peking Union Medical School Hospital, Beijing 100730, China.
出版信息
Clin Nutr Res. 2015 Apr;4(2):132-6. doi: 10.7762/cnr.2015.4.2.132. Epub 2015 Jan 16.
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.
线粒体神经胃肠性脑病（MNGIE）的特征是严重的胃肠动力障碍。强烈建议进行早期和长期营养治疗。我们报告了一例正在接受长期营养治疗的MNGIE患者。该患者被诊断出患有严重的脂肪肝和高脂血症并发症，同时伴有胸苷磷酸化酶（TYMP）基因纯合突变（c.217G>A）。据我们所知，这是此类病例的首次报告。在此，我们描述了针对上述并发症的预防措施以及线粒体疾病特异性营养治疗。
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