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Updated: Aug 18, 2026

Oxygen-Independent Assays to Measure Mitochondrial Function in Mammals
Published on: May 19, 2023
Creatine metabolism in combined methylmalonic aciduria and homocystinuria
Olaf A Bodamer1, Trilochan Sahoo, Arthur L Beaudet
1Unit of Biochemical Genetics, Department of Pediatrics, University of Vienna Children's Hospital, Vienna, Austria. olaf.bodamer@meduniwien.ac.at
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 +/- 4.8 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.
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