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Pathway Description
Hypermethioninemia
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Hypermethioninemia is a rare error of metabolism (IEM) which arises when there is a disfunction in the gene called AHCY. This gene is responsible for Adenosylhomocysteinase, an enzyme which takes S-adenosyl homocysteine as input, and produces homocysteine as its output. This outputted compound through the its respective pathway may be turned back into cysteine methionine. A dysfunctional defect Adenosylhomocysteinase can lead to the build of of these two compounds in the blood. Of particular interest is that individuals who are affected by hypermethioninemia present a wide spectrum of symptoms. This ranges anywhere from the complete absence of symptoms, to mental retardation, muscle weakness, liver problems, and unusual facial features.
References
Hypermethioninemia References
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Pubmed: 27465642
Methionine Metabolism References
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Pubmed: 15632090
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Nishi N, Tanabe H, Oya H, Urushihara M, Miyanaka H, Wada F: Identification of probasin-related antigen as cystathionine gamma-lyase by molecular cloning. J Biol Chem. 1994 Jan 14;269(2):1015-9.
Pubmed: 8288556
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Pubmed: 8753772
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Pubmed: 10417327
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Pulkka A, Keranen MR, Salmela A, Salmikangas P, Ihalainen R, Pajunen A: Nucleotide sequence of rat S-adenosylmethionine decarboxylase cDNA. Comparison with an intronless rat pseudogene. Gene. 1990 Feb 14;86(2):193-9. doi: 10.1016/0378-1119(90)90279-z.
Pubmed: 2323572
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Pubmed: 2460457
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Pubmed: 1936275
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000341
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