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Pathway Description
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
Homo sapiens
Disease Pathway
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency, Creatine Deficiency Syndrome, Creatine Deficiency due to AGAT Deficiency, GATM Deficiency) is caused by mutation in the GATM gene, which codes for L-arginine:glycine amidinotransferase, which catalyzes the reaction between L-arginine and glycine, transferring an amidino group from L-arginine to glycine, producing L-ornithine and guanidinoacetate, a precursor of creatine. A defect in this enzyme causes a decrease in concentration of creatine and guanidinoacetate in plasma and urine. Symptoms include mental and motor retardation, seizures, and delayed or abnormal speech development.
References
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency) References
[OMIM: Entry 612718](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612718)
[Metagene: mp=L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY](http://www.metagene.de/program/d.prg?mp=L-ARGININE:GLYCINE%20AMIDINOTRANSFERASE%20DEFICIENCY)
Battini R, Alessandri MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G: Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr. 2006 Jun;148(6):828-30. doi: 10.1016/j.jpeds.2006.01.043.
Pubmed: 16769397
Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G: Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov;69(5):1127-33. doi: 10.1086/323765. Epub 2001 Sep 10.
Pubmed: 11555793
Schulze A: Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50.
Pubmed: 12701824
Verma A: Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. Neurology. 2010 Jul 13;75(2):186-8. doi: 10.1212/WNL.0b013e3181e7cabd.
Pubmed: 20625172
Battini R, Alessandri MG, Casalini C, Casarano M, Tosetti M, Cioni G: Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. Orphanet J Rare Dis. 2017 Feb 2;12(1):21. doi: 10.1186/s13023-017-0577-5.
Pubmed: 28148286
Arginine and Proline 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.
Wu G, Bazer FW, Davis TA, Kim SW, Li P, Marc Rhoads J, Carey Satterfield M, Smith SB, Spencer TE, Yin Y: Arginine metabolism and nutrition in growth, health and disease. Amino Acids. 2009 May;37(1):153-68. doi: 10.1007/s00726-008-0210-y. Epub 2008 Nov 23.
Pubmed: 19030957
Wu G, Morris SM Jr: Arginine metabolism: nitric oxide and beyond. Biochem J. 1998 Nov 15;336 ( Pt 1):1-17. doi: 10.1042/bj3360001.
Pubmed: 9806879
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