Guanidinoacetate methyltransferase deficiency

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... 

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).]... 

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... 

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

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. 

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... 

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... 

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