Creatine metabolism in combined methylmalonic aciduria and homocystinuria
- 22 March 2005
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 57 (4), 557-560
- https://doi.org/10.1002/ana.20419
Abstract
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 ± 4.8μmol/L (p < 0.0001), whereas plasma creatine concentrations were in the low reference range, 43.8 ± 20.7μmol/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. Ann Neurol 2005;57:557–560Keywords
Funding Information
- NIH (National Institute of Diabetes and Digestive and Kidney Diseases) (DH15289, 5P30DH26557)
- United States Department of Veterans Affairs
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