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Pathway Description
Methionine Adenosyltransferase Deficiency
Homo sapiens
Disease Pathway
Methionine adenosyltransferase (MAT; Hypermethioninemia; MAT I/III deficiency) deficiency is caused by mutations in the MAT1A gene which causes isolated hypermethioninemia. MAT catalyzes the formation of adenosylmethionine from methionine and ATP. Adenosylmethionine is an important methyl donor in most transmethylation reactions. MAT dificiency is characterized by increased homocysteine and methionine levels in plasma; and accumulation of methionine in urine. Symptoms include dystonia, mental retardation and unusual odor.
References
Methionine Adenosyltransferase Deficiency References
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.66 Heilbronn: SPS Verlagsgesellschaft
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. doi: 10.1007/BF01799629.
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
Gaull GE, Bender AN, Vulovic D, Tallan HH, Schaffner F: Methioninemia and myopathy: a new disorder. Ann Neurol. 1981 May;9(5):423-32. doi: 10.1002/ana.410090503.
Pubmed: 7271238
Gahl WA, Finkelstein JD, Mullen KD, Bernardini I, Martin JJ, Backlund P, Ishak KG, Hoofnagle JH, Mudd SH: Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. Am J Hum Genet. 1987 Jan;40(1):39-49.
Pubmed: 3812486
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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