Guanidinoacetate methyltransferase

Table 7.2.5 Pathological values for Cr and GA. AGAT L-Arginine glycine amidinotransferase, GAMT 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... 

Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C (1998) An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal 18 659-665... 

Since the overall reaction of cyclosporin formation is a very complex process (at least 40 single reactions), for the investigation of the A-methylation reaction, the formation of the diketopiperazines cyclo(D-alanine-A-methylleucine) and cyclo (L-alanine-A-methylleucine) was used. In contrast to other A-methyltrans-ferases such as guanidinoacetate methyltransferase [94] or indolethylamine meth-yltransferase [95], in which AdoHcy acts as a competitive inhibitor, in the case... 

Y Takata, M Fujioka. Identification of a tyrosine residue in rat guanidinoacetate methyltransferase that is photolabeled with S-adenosyl-L-methionine. Biochemistry 31 4369-4374, 1992. 

Komoto J, Yamada T, Takata Y, Konishi K, Ogawa H, Gomi T, et al. Catalytic mechanism of guanidinoacetate methyltransferase crystal structures of guanidinoacetate methyltransferase ternary complexes. Biochemistry 2004 43 14385-14394. 

Von Figura K, Hanefeld F, Isbrandt D, Stocker-Ipsiroglu S. Guanidinoacetate methyltransferase deficiency. In Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinder KW, et al, eds. The metabolic molecular bases of inherited disease, 8th ed. New York McGraw-Hill, 2001 1897-908. 

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...

Ganesan V, Johnson A, Connelly A, Eckhardt S, Surtees RAH. Guanidinoacetate methyltransferase deficiency New clinical features. Pediatr Neurol 1997 17 155-157... 

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... 

Salke-Kellermann RA, Thiel T, Hennig J, Stockler-Ipsiroglu S, Kramer G, Martin E. Guanidinoacetate methyltransferase deficiency and epilepsy. Epilepsia (submitted)... 

Has J, Miihl A, Stockler-Ipsiroglu S. Guanidinoacetate methyltransferase (GAMT) deficiency non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism. Clin Chim Acta 2000 290 179-188... 

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. 

Ganesan, V., A. Johnson, A. Connelly, S. Eckhardt, and R.A. Surtees, Guanidinoacetate methyltransferase deficiency new clinical features. Pediatr Neurol, 17 155-157, 1997. 

Guanidinoacetate methyltransferase Serine hydroxymethyltransferase Ornithine carbamoyltransferase Choline acetyltransferase... 

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