Mitochondrial DNA depletion syndrome 1 (MNGIE type)


What is Mitochondrial Neurogastrointestinal Encephalopathy?

Mitochondrial Neurogastrointestinal Encephalopathy is a disease that primarily affects the mitochondria, which is the energy producing unit for the cell and the whole body that converts the food we eat into the energy. Common symptoms seen in Mitochondrial Neurogastrointestinal Encephalopathy disease (MNGIE) include digestive tract issues including nausea, inability to swallow easily, gastroesophageal reflux, vomiting after eating, abdominal pain and diarrhea. There are also symptoms that affect the nerves including drooping eyelid, paralysis of the eye muscles; leukoencephalopathy (deterioration of white matter in the brain); as well as demyelinating peripheral neuropathy which shows as tingling, numbness, and pain and weakness affecting the limbs more so in the legs. Currently there is no cure without risk but treatment can include symptom management, as well as stem cell transplant, enzyme replacement therapy and platelet transfusion. All have the goal of reducing the levels of thymidine in the cells and body which is what primarily causes the symptoms in MNGIE. Thymidine usually functions as a building block of DNA which provides the instructions for the body to build and maintain itself.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2016-06-02


Hirano M. Mitochondrial Neurogastrointestinal Encephalopathy Disease. 2005 Apr 22 [Updated 2016 Jan 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from:

Di Meo I, Lamperti C, Tiranti V. Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches. EMBO Molecular Medicine. 2015;7(10):1257-1266. doi:10.15252/emmm.201505040.

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