Gene Review:
GAMT - guanidinoacetate N-methyltransferase
Homo sapiens
Synonyms:
CCDS2, Guanidinoacetate N-methyltransferase, HEL-S-20, PIG2, TP53I2
- The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice. Jenne, D.E., Olsen, A.S., Zimmer, M. Biochem. Biophys. Res. Commun. (1997)
- Creatine deficiency syndromes. Schulze, A. Mol. Cell. Biochem. (2003)
- Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. Stromberger, C., Bodamer, O.A., Stöckler-Ipsiroglu, S. J. Inherit. Metab. Dis. (2003)
- Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease? Wyss, M., Schulze, A. Neuroscience (2002)
- Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. Leuzzi, V. J. Child Neurol. (2002)
- Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Stöckler, S., Hanefeld, F., Frahm, J. Lancet (1996)
- Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Stöckler, S., Isbrandt, D., Hanefeld, F., Schmidt, B., von Figura, K. Am. J. Hum. Genet. (1996)
- Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Schmidt, A., Marescau, B., Boehm, E.A., Renema, W.K., Peco, R., Das, A., Steinfeld, R., Chan, S., Wallis, J., Davidoff, M., Ullrich, K., Waldschütz, R., Heerschap, A., De Deyn, P.P., Neubauer, S., Isbrandt, D. Hum. Mol. Genet. (2004)
- Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. Isbrandt, D., von Figura, K. Biochim. Biophys. Acta (1995)
- Laboratory diagnosis of defects of creatine biosynthesis and transport. Verhoeven, N.M., Salomons, G.S., Jakobs, C. Clin. Chim. Acta (2005)
- Catabolism of 3'-azido-3'-deoxythymidine in hepatocytes and liver microsomes, with evidence of formation of 3'-amino-3'-deoxythymidine, a highly toxic catabolite for human bone marrow cells. Cretton, E.M., Xie, M.Y., Bevan, R.J., Goudgaon, N.M., Schinazi, R.F., Sommadossi, J.P. Mol. Pharmacol. (1991)
- Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. Morris, A.A., Appleton, R.E., Power, B., Isherwood, D.M., Abernethy, L.J., Taylor, R.W., Turnbull, D.M., Verhoeven, N.M., Salomons, G.S., Jakobs, C. Journal of inherited metabolic disease (2007)
- Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts. Almeida, L.S., Rosenberg, E.H., Martinez-Mu??oz, C., Verhoeven, N.M., Vilarinho, L., Jakobs, C., Salomons, G.S. Mol. Genet. Metab. (2006)
- Comparative metabolism of the antiviral dimer 3'-azido-3'-deoxythymidine-P-2',3'-dideoxyinosine and the monomers zidovudine and didanosine by rat, monkey, and human hepatocytes. Pan-Zhou, X.R., Cretton-Scott, E., Zhou, X.J., Xie, M.Y., Rahmani, R., Schinazi, R.F., Duchin, K., Sommadossi, J.P. Antimicrob. Agents Chemother. (1997)
- Evidence for creatine biosynthesis in Müller glia. Nakashima, T., Tomi, M., Tachikawa, M., Watanabe, M., Terasaki, T., Hosoya, K. Glia (2005)
- Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies. Carducci, C., Birarelli, M., Leuzzi, V., Carducci, C., Battini, R., Cioni, G., Antonozzi, I. Clin. Chem. (2002)
- Clinical pharmacokinetics of 3'-azido-3'-deoxythymidine (zidovudine) and catabolites with formation of a toxic catabolite, 3'-amino-3'-deoxythymidine. Stagg, M.P., Cretton, E.M., Kidd, L., Diasio, R.B., Sommadossi, J.P. Clin. Pharmacol. Ther. (1992)
- Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Almeida, L.S., Verhoeven, N.M., Roos, B., Valongo, C., Cardoso, M.L., Vilarinho, L., Salomons, G.S., Jakobs, C. Mol. Genet. Metab. (2004)