Creatine Research Today is a free monthly online journal that collates and summarizes the latest research about Creatine, including details on supplements, side-effects, benefits, dangers, muscle growth.

Creatine metabolism in combined methylmalonic aciduria and homocystinuria.

Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stöckler-Ipsiroglu S, Wagner C, Scaglia F

Unit of Biochemical Genetics, Department of Pediatrics, University of Vienna Children's Hospital, Vienna, Austria. olaf.bodamer@meduniwien.ac.at

Methylation is an important aspect of many fundamental biological processes including creatine biosynthesis. We studied five patients with an inborn error of cobalamin metabolism to characterize the relation between homocysteine and creatine metabolism. Plasma guanidinoacetate concentrations were increased, 14.9 +/- 4.8 micromol/L (p < 0.0001), whereas plasma creatine concentrations were in the low reference range, 43.8 +/- 20.7 micromol/L (p = not significant). Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups. The neurotoxic effects of guanidinoacetate may be partly responsible for the observed neurological phenotype.

Published 29 March 2005 in Ann Neurol, 57(4): 557-60.
Full-text of this article is available online (may require subscription).

© 2004-2008 Creatine Research Today. All Rights Reserved.