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GAMT  -  guanidinoacetate N-methyltransferase

Homo sapiens

Synonyms: CCDS2, Guanidinoacetate N-methyltransferase, HEL-S-20, PIG2, TP53I2
 
 
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Disease relevance of GAMT

 

Psychiatry related information on GAMT

 

High impact information on GAMT

  • INTERPRETATION: Oral creatine replacement has proved to be effective in one child with an inborn error of GAMT [6].
  • METHODS: We studied and treated an infant with extrapyramidal signs who was shown--by assay for urinary creatinine and by analysis of brain metabolites with use of nuclear magnetic resonance spectra--to have depletion of body and brain creatine, due to inborn deficiency of guanidinoacetate methyltransferase (GAMT) [6].
  • In two children with an accumulation of guanidinoacetate in brain and a deficiency of creatine in blood, a severe deficiency of guanidinoacetate methyltransferase (GAMT) activity was detected in the liver [7].
  • We provide evidence that GAMT deficiency in mice causes biochemical adaptations in brain and skeletal muscle [8].
  • Disruption of the open reading frame of the murine GAMT gene in the first exon resulted in the elimination of 210 of the 237 amino acids present in mGAMT [8].
 

Chemical compound and disease context of GAMT

 

Biological context of GAMT

 

Anatomical context of GAMT

 

Associations of GAMT with chemical compounds

 

Other interactions of GAMT

 

Analytical, diagnostic and therapeutic context of GAMT

  • METHODS: Three patients with AGAT deficiency from the same pedigree and their eight relatives, as well as a patient affected by a GAMT defect and his parents were analyzed by a new HPLC procedure in comparison with 90 controls [16].
  • Moreover, the expression of the GAMT-EGFP fusion protein was analyzed by Western blot, confirming the presence of GAMT fusion protein, both in the stable as well as in the transient transfectants [13].
  • Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA [9].

References

  1. 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) [Pubmed]
  2. Creatine deficiency syndromes. Schulze, A. Mol. Cell. Biochem. (2003) [Pubmed]
  3. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. Stromberger, C., Bodamer, O.A., Stöckler-Ipsiroglu, S. J. Inherit. Metab. Dis. (2003) [Pubmed]
  4. Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease? Wyss, M., Schulze, A. Neuroscience (2002) [Pubmed]
  5. Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. Leuzzi, V. J. Child Neurol. (2002) [Pubmed]
  6. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Stöckler, S., Hanefeld, F., Frahm, J. Lancet (1996) [Pubmed]
  7. 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) [Pubmed]
  8. 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) [Pubmed]
  9. Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. Isbrandt, D., von Figura, K. Biochim. Biophys. Acta (1995) [Pubmed]
  10. Laboratory diagnosis of defects of creatine biosynthesis and transport. Verhoeven, N.M., Salomons, G.S., Jakobs, C. Clin. Chim. Acta (2005) [Pubmed]
  11. 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) [Pubmed]
  12. 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) [Pubmed]
  13. 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) [Pubmed]
  14. 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) [Pubmed]
  15. Evidence for creatine biosynthesis in Müller glia. Nakashima, T., Tomi, M., Tachikawa, M., Watanabe, M., Terasaki, T., Hosoya, K. Glia (2005) [Pubmed]
  16. 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) [Pubmed]
  17. 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) [Pubmed]
  18. 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) [Pubmed]
 
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