1. Rare digestive disease: Mitochondrial neurogastrointestinal encephalomyopathy, review of the literature.
- Author
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Sun, Ying Hao, Bai, Xiao Yin, Guo, Tao, Fan, Si Yuan, Ruan, Ge Chong, Zhou, Wei Xun, and Yang, Hong
- Subjects
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SUPERIOR mesenteric artery syndrome , *NUCLEOTIDE sequencing , *MEDICAL sciences , *FECAL occult blood tests , *HEMATOPOIETIC stem cell transplantation , *OXIDATIVE phosphorylation - Abstract
The article discusses Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE), a rare autosomal recessive disorder caused by mutations in the thymidine phosphorylase (TP) gene. Patients with MNGIE experience a range of symptoms affecting the gastrointestinal (GI) tract and the nervous system, including chronic intestinal pseudo-obstruction (CIPO). Diagnosis of MNGIE is often delayed due to non-specific GI symptoms, leading to misdiagnoses with conditions like Crohn's disease. Genetic testing is crucial for confirming MNGIE, and treatment options include nutrition support, stem cell transplantation, and liver transplantation. The article highlights the importance of early diagnosis and targeted treatment to improve patient outcomes. [Extracted from the article]
- Published
- 2024
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