Creatine metabolism in combined methylmalonic aciduria and homocystinuria

Olaf A. Bodamer, Trilochan Sahoo, Arthur L. Beaudet, William E. O'Brien, Teodoro Bottiglieri, Sylvia Stöckler-Ipsiroglu, Conrad Wagner, Fernando Scaglia

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)557-560
Number of pages4
JournalAnnals of neurology
Issue number4
StatePublished - Apr 1 2005

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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