Creatine deficiency syndrome

Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C (2001) X-linked creatine-transporter gene (SLC6A8) defect a new creatine-deficiency syndrome. Am J Hum Genet 68 1497-1500... 

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).]... 

A. Schulze, T. Hess, R. Wevers, et al. Creatine deficiency. syndrome caused by guanidinoacetate methyltran.sferase deficiency Diagnostic tools for a new inborn error of metabolism. Journal of Pediatrics 131,626 (1997). 

S. Stiickler-Ipsiroglu Creatine deficiency syndromes A new perspective on metabolic disorders and a diagnostic challenge. Journal of Pediatrics 131, 510(1997). 

SLC6 Na - and Cl"-dependent neurotransmitter transporter 16 Paraoxetine, fluoxetine X-linked creatine deficiency syndrome... 

R 573 A. Schulze, Creatine Deficiency Syndromes , Mol Cell Biochem., 2003, 244,143... 

Recently two new creatine deficiency syndromes (AGAT and CRTR deficiency) have been described AGAT deficiency is characterised by a cerebral creatine deficiency which is reversible upon oral creatine substitution and by low levels of guanidinoacetate in body fluids. A CRTR deficiency is mainly characterised by a cerebral creatine deficiency which is not reversible upon oral creatine substitution and by normal or elevated creatine concentrations in plasma and urine. 

Corticosterone methyl oxidase II deficiency Costeff optic atrophy syndrome Coupling state defect Creatine deficiency Creatine transporter deficiency Cu-binding P-type ATPase deficiency y-Cystathionase deficiency Cystathionine gamma-lyase deficiency Cystathionine y -synthase deficiency Cystathioninuria... 

DeGrauw, T.J., K.C. Cecil, G.S. Salomons, S.J.M. Van Dooren, N.M. Verhoeven, WS. Ball, and C. Gadobs, The clinical syndrome of creatine transporter deficiency, in 6th Internationl Conference on Guarddino Compounds in Biology and Medicine. Cincinatti, OH, 2001 (abstract). 

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