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Pathway Description
MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy)
Homo sapiens
Disease Pathway
Myoneurogastrointestinal encephalopathy, or mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), is a multisystem disorder caused by mutations in the gene encoding thymidine phosphorylase, which normally uses thymidine and phosphate as substrates to catalyze the reaction between these two substrates to create thymine and 2-deoxy-alpha-D-ribose 1-phosphate. MNGIE causes accumulation of thymidine and deoxyuridine in the urine. Symptoms of MNGIE include ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, peripheral neuropathy, and myopathy.
References
MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy) References
[Uniprot: P19971](http://www.uniprot.org/uniprot/P19971)
[OMIM: Entry 603041](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603041)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.74 Heilbronn: SPS Verlagsgesellschaft
Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH, Kohlschutter A, Mayer G, Rahlf G, Servidei S, et al.: Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol. 1987;74(3):248-58.
Pubmed: 2823522
Giordano C, Powell H, Leopizzi M, De Curtis M, Travaglini C, Sebastiani M, Gallo P, Taylor RW, d'Amati G: Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. Neurology. 2009 Mar 24;72(12):1103-5. doi: 10.1212/01.wnl.0000345002.47396.e1.
Pubmed: 19307547
Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al.: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology. 1994 Apr;44(4):721-7.
Pubmed: 8164833
Nishino I, Spinazzola A, Hirano M: Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999 Jan 29;283(5402):689-92.
Pubmed: 9924029
Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimaraes 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: Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 2000 Jun;47(6):792-800.
Pubmed: 10852545
Hirano M: Mitochondrial Neurogastrointestinal Encephalopathy Disease
Pubmed: 20301358
Pyrimidine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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