Creatine guanidinoacetate methyltransferase

Stockier S, Marescau B, De Deyn PP, Trijbels JM, Hanefeld F (1997) Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 46 1189-11939... 

The H-NMR pattern in vitro, 600 MHz) of cerebrospinal fluid (CSF) of a patient with creatine deficiency syndrome (a) compared with normal CSF (b). Note the near absence of creatine and creatinine in the patient s CSF. The ethosuximide observed in the patient s CSF is a drug used in antiepileptic therapy. [Reproduced with permission from A. Schulze et al., Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency diagnostic tools for a new inborn error of metabolism. J. Pediatr. 131, 626 (1997).]... 

Glycine amidinotransferase 2 guanidinoacetate methyltransferase 3 creatininase 4 creatine kinase... 

Fig. 24.1. Metabolic pathway of creatine/creatine-phosphate. AGAT, arginine glycine amidinotransferase GAMT, guanidinoacetate methyltransferase CRTR, creatine transporter CK, creatine kinase...

Leuzzi V, Bianchi MC, Tosetti M, Carducci C, Cerquiglini CA, Cioni G, Antonozzi I. Brain creatine depletion guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). Neurology 2000 14 55 1407-1459... 

Ensenauer R, Thiel T, Schwab KO, Lehnert W. Presence of muscle creatine in a patient with guanidinoacetate methyltransferase (GAMT) deficiency. J Inher Metab Dis 2000 23 (suppl 1) 212... 

Stockier S, Isbrandt D, Hanefeld F, Schmidt B, Figura von K. Guanidinoacetate methyltransferase deficiency the first inborn error of creatine metabolism in man. Am J Hum Genet 1996 58 914-922... 

Stockier S, Hanefeld F, Frahm J. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 1996 348 789-790... 

Ensenauer, R., T. Thiel, K.O. Schwab, U. Tacke, S. Stockler-Ipsiroglu, A. Schulze, J. Hennig, and W. Lehnert, Guanidinoacetate methyltransferase deficiency differences of creatine uptake in human brain and muscle. Mol Genet Metab, 82 208-213. 2004. 

In the next step guanidinoacetate is methylated by S-adenosylmethionine by cytosolic S-adenosylmethionine guanidinoacetate-N-methyltransferase to form creatine. 

Figure 30 The creatine (42) biosynthesis pathway consists of two enzymes L-arginine glycine amidinotransferase (AGAT) and guanidinoacetate A/-methyltransferase (GAMT). Atoms derived from glycine are shown in green, arginine in blue, and S-adenosylmethionine (AdoMet) in black.

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