Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive and fatal multisystem metabolic disorder. It presents with wide-ranging gastrointestinal and neurologic symptoms. It is caused by a mutation in the TYMP gene which impairs thymidine phosphorylase (TP) activity, t...

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Bibliographic Details
Main Authors: Antonios Tawk, Mohammed Hussein Kamarreddine, Mona Dagher, Ghadi Abboud, Mohamad Chams, Fatmeh Ghandour-Hajj, Mounir Khoury, Said Farhat
Format: Article
Language:English
Published: Karger Publishers 2020-04-01
Series:Case Reports in Gastroenterology
Subjects:
mitochondrial neurogastrointestinal encephalomyopathy
genetic mutation
mitochondrial dysfunction
gastroenterology
neurogastroenterology
Online Access:https://www.karger.com/Article/FullText/506187

Internet

https://www.karger.com/Article/FullText/506187

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