Xu, C. Guanidinoacetate Methyltransferase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4063 (accessed on 28 September 2026).
Xu C. Guanidinoacetate Methyltransferase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4063. Accessed September 28, 2026.
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles.
genetic conditions
References
Almeida LS, Vilarinho L, Darmin PS, Rosenberg EH, Martinez-Muñoz C, Jakobs C, Salomons GS. A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. MolGenet Metab. 2007 May;91(1):1-6.
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Braissant O. GAMT deficiency: 20 years of a treatable inborn error ofmetabolism. Mol Genet Metab. 2014 Jan;111(1):1-3. doi:10.1016/j.ymgme.2013.11.002.
Béard E, Braissant O. Synthesis and transport of creatine in the CNS:importance for cerebral functions. J Neurochem. 2010 Oct;115(2):297-313. doi:10.1111/j.1471-4159.2010.06935.x.
Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV,Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. Expandedclinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT)deficiency. Mol Genet Metab. 2009 Jan;96(1):38-43. doi:10.1016/j.ymgme.2008.10.008.
El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, BarshopBA, Schulze A, Koeberl DD, Young SP. Elevation of guanidinoacetate in newborndried blood spots and impact of early treatment in GAMT deficiency. Mol GenetMetab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003.
Gordon N. Guanidinoacetate methyltransferase deficiency (GAMT). Brain Dev.2010 Feb;32(2):79-81. doi: 10.1016/j.braindev.2009.01.008.Review.
Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D,Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L,Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K,Valayannopoulos V, Williams M, Salomons GS. Thirteen new patients withguanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. Hum Mutat. 2014Apr;35(4):462-9. doi: 10.1002/humu.22511.
Mercimek-Mahmutoglu S, Sinclair G, van Dooren SJ, Kanhai W, Ashcraft P, MichelOJ, Nelson J, Betsalel OT, Sweetman L, Jakobs C, Salomons GS. Guanidinoacetatemethyltransferase deficiency: first steps to newborn screening for a treatableneurometabolic disease. Mol Genet Metab. 2012 Nov;107(3):433-7. doi:10.1016/j.ymgme.2012.07.022.
Nasrallah F, Feki M, Kaabachi N. Creatine and creatine deficiency syndromes:biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163-71. doi:10.1016/j.pediatrneurol.2009.07.015. Review.
Pasquali M, Schwarz E, Jensen M, Yuzyuk T, DeBiase I, Randall H, Longo N.Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT)deficiency. J Inherit Metab Dis. 2014 Mar;37(2):231-6. doi:10.1007/s10545-013-9662-7.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC,Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B,Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T,Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N,Nyhan W, Schulze A. Guanidinoacetate methyltransferase (GAMT) deficiency:outcomes in 48 individuals and recommendations for diagnosis, treatment andmonitoring. Mol Genet Metab. 2014 Jan;111(1):16-25. doi:10.1016/j.ymgme.2013.10.018.
Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N. Evidence-basedtreatment of guanidinoacetate methyltransferase (GAMT) deficiency. Mol GenetMetab. 2013 Nov;110(3):255-62. doi: 10.1016/j.ymgme.2013.08.020.
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