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Pathway Description
Hypermethioninemia
Homo sapiens
Disease Pathway
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
[Uniprot: Q00266](http://www.uniprot.org/uniprot/Q00266)
[OMIM: Entry 250850](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250850)
Blom HJ, Davidson AJ, Finkelstein JD, Luder AS, Bernardini I, Martin JJ, Tangerman A, Trijbels JM, Mudd SH, Goodman SI, et al.: Persistent hypermethioninaemia with dominant inheritance. J Inherit Metab Dis. 1992;15(2):188-97.
Pubmed: 1527987
Chamberlin ME, Ubagai T, Mudd SH, Levy HL, Chou JY: Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. Am J Hum Genet. 1997 Mar;60(3):540-6.
Pubmed: 9042912
Finkelstein JD, Kyle WE, Martin JJ: Abnormal methionine adenosyltransferase in hypermethioninemia. Biochem Biophys Res Commun. 1975 Oct 27;66(4):1491-7.
Pubmed: 1191305
Gaull GE, Tallan HH, Lonsdale D, Przyrembel H, Schaffner F, von Bassewitz DB: Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. J Pediatr. 1981 May;98(5):734-41.
Pubmed: 7229751
Schweinberger BM, Wyse AT: Mechanistic basis of hypermethioninemia. Amino Acids. 2016 Nov;48(11):2479-2489. doi: 10.1007/s00726-016-2302-4. Epub 2016 Jul 27.
Pubmed: 27465642
Methionine 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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