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Xu, R. Mitochondrial Neurogastrointestinal Encephalopathy Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4238 (accessed on 28 September 2026).
Xu R. Mitochondrial Neurogastrointestinal Encephalopathy Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4238. Accessed September 28, 2026.
Xu, Rita. "Mitochondrial Neurogastrointestinal Encephalopathy Disease" Encyclopedia, https://encyclopedia.pub/entry/4238 (accessed September 28, 2026).
Xu, R. (2020, December 23). Mitochondrial Neurogastrointestinal Encephalopathy Disease. In Encyclopedia. https://encyclopedia.pub/entry/4238
Xu, Rita. "Mitochondrial Neurogastrointestinal Encephalopathy Disease." Encyclopedia. Web. 23 December, 2020.
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.

genetic conditions

References

  1. Hirano M, Martí R, Spinazzola A, Nishino I, Nishigaki Y. Thymidinephosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrialdisorder. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1217-25.
  2. Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP,Lovelace RE, Butler I, Bertorini TE, et al. Mitochondrial neurogastrointestinalencephalomyopathy (MNGIE): clinical, biochemical, and genetic features of anautosomal recessive mitochondrial disorder. Neurology. 1994 Apr;44(4):721-7.
  3. Hirano M. Mitochondrial Neurogastrointestinal Encephalopathy Disease. 2005 Apr22 [updated 2016 Jan 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1179/
  4. Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features andtherapeutic approaches. Biosci Rep. 2007 Jun;27(1-3):151-63. Review.
  5. Marti R, Spinazzola A, Nishino I, Andreu AL, Naini A, Tadesse S, Oliver JA,Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy and thymidinemetabolism: results and hypotheses. Mitochondrion. 2002 Nov;2(1-2):143-7.
  6. Nishino I, Spinazzola A, Hirano M. MNGIE: from nuclear DNA to mitochondrialDNA. Neuromuscul Disord. 2001 Jan;11(1):7-10. Review.
  7. Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD,Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M. Mitochondrialneurogastrointestinal encephalomyopathy: an autosomal recessive disorder due tothymidine phosphorylase mutations. Ann Neurol. 2000 Jun;47(6):792-800.
  8. Teitelbaum JE, Berde CB, Nurko S, Buonomo C, Perez-Atayde AR, Fox VL.Diagnosis and management of MNGIE syndrome in children: case report and review ofthe literature. J Pediatr Gastroenterol Nutr. 2002 Sep;35(3):377-83.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 769
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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