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
Ann Neurol. 2005 57 (4): 557-60

PMID: 15786446 · DOI:10.1002/ana.20419

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.

MeSH Terms (14)

Adult Amino Acid Metabolism, Inborn Errors Child Child, Preschool Creatine Female Glycine Homocysteine Homocystinuria Humans Male Methionine Methylmalonic Acid Vitamin B 12

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