Mitochondrial DNA depletion syndrome 1 (MNGIE type)

Overview

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.

References
  • 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: http://www.ncbi.nlm.nih.gov/books/NBK1179/
  • 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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What is Mitochondrial Neurogastrointestinal Encephalopathy also known as?

How many people have Mitochondrial Neurogastrointestinal Encephalopathy?

What are mitochondria and how do they affect mitochondrial neurogastrointestinal encephalopathy?

What is Mitochondrial Neurogastrointestinal Encephalopathy also known as?

Other names for Mitochondrial Neurogastrointestinal Encephalopathy are:

  • MEPOP
  • Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction
  • Mitochondrial neurogastrointestinal encephalopathy syndrome
  • MNGIE disease
  • MNGIE syndrome
  • Myoneurogastrointestinal encephalopathy syndrome
  • Oculogastrointestinal muscular dystrophy
  • OGIMD
  • POLIP
  • Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction
  • Thymidine phosphorylase deficiency
References
  • Mitochondrial Neurogastrointestinal Encephalopathy. Genetics Home Referencehttps://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease#sourcesforpage
How many people have Mitochondrial Neurogastrointestinal Encephalopathy?

Mitochondrial Neurogastrointestinal Encephalopathy is very rare. There is no good information on how many people have Mitochondrial Neurogastrointestinal Encephalopathy disease. However, 120 people have been reported to have this disease.

References
  • https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease - Genetic Home Reference for MNGIE
  • 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: http://www.ncbi.nlm.nih.gov/books/NBK1179/
What are mitochondria and how do they affect mitochondrial neurogastrointestinal encephalopathy?

Mitochondria are tiny units present in almost every cell in the body. They produce energy for the cell and the whole body. This energy helps the body to maintain its daily functions as well as grow and repair itself. They are made up of tiny packages of enzymes that break down nutrients we eat into energy for our body. When there is a buildup of thymidine in the cell from having mitochondrial neurogastrointestinal encephalopathy, this can make the mitochondrial not function properly and fail - which can injure both the mitochondria and the cell that it is in.

References
  • 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: http://www.ncbi.nlm.nih.gov/books/NBK1179/
  • 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. http://www.ncbi.nlm.nih.gov/pubmed/26194912

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