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 journalArticle

23 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)557-560
Number of pages4
JournalAnnals of Neurology
Volume57
Issue number4
DOIs
StatePublished - Apr 1 2005

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Homocystinuria
Creatine
Biological Phenomena
Inborn Errors Metabolism
Homocysteine
Vitamin B 12
Methylation
Reference Values
Phenotype
Methylmalonic acidemia
glycocyamine

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bodamer, O. A., Sahoo, T., Beaudet, A. L., O'Brien, W. E., Bottiglieri, T., Stöckler-Ipsiroglu, S., ... Scaglia, F. (2005). Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Annals of Neurology, 57(4), 557-560. https://doi.org/10.1002/ana.20419

Creatine metabolism in combined methylmalonic aciduria and homocystinuria. / Bodamer, Olaf A.; Sahoo, Trilochan; Beaudet, Arthur L.; O'Brien, William E.; Bottiglieri, Teodoro; Stöckler-Ipsiroglu, Sylvia; Wagner, Conrad; Scaglia, Fernando.

In: Annals of Neurology, Vol. 57, No. 4, 01.04.2005, p. 557-560.

Research output: Contribution to journalArticle

Bodamer, OA, Sahoo, T, Beaudet, AL, O'Brien, WE, Bottiglieri, T, Stöckler-Ipsiroglu, S, Wagner, C & Scaglia, F 2005, 'Creatine metabolism in combined methylmalonic aciduria and homocystinuria', Annals of Neurology, vol. 57, no. 4, pp. 557-560. https://doi.org/10.1002/ana.20419
Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stöckler-Ipsiroglu S et al. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Annals of Neurology. 2005 Apr 1;57(4):557-560. https://doi.org/10.1002/ana.20419
Bodamer, Olaf A. ; Sahoo, Trilochan ; Beaudet, Arthur L. ; O'Brien, William E. ; Bottiglieri, Teodoro ; Stöckler-Ipsiroglu, Sylvia ; Wagner, Conrad ; Scaglia, Fernando. / Creatine metabolism in combined methylmalonic aciduria and homocystinuria. In: Annals of Neurology. 2005 ; Vol. 57, No. 4. pp. 557-560.
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