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Papers of the Week

2020 May 08

BMC Gastroenterol



Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy.


Habibzadeh P, Silawi M, Dastsooz H, Bahramjahan S, Ezzatzadegan Jahromi S, Ostovan V R, Yavarian M, Mofatteh M, Faghihi M A
BMC Gastroenterol. 2020 May 08; 20(1):142.
PMID: 32384880.


Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, encoding nuclear thymidine phosphorylase (TP). MNGIE mainly presents with gastrointestinal symptoms and is mostly misdiagnosed in many patients as malabsorption syndrome, inflammatory bowel disease, anorexia nervosa, and intestinal pseudo-obstruction. Up to date, more than 80 pathogenic and likely pathogenic mutations associated with the disease have been reported in patients from a wide range of ethnicities. The objective of this study was to investigate the underlying genetic abnormalities in a 25-year-old woman affected with MNGIE.