Challenges for basic research in glutaryl-CoA dehydrogenase deficiency

Stefan Kölker, K. A. Strauss, S. I. Goodman, G. F. Hoffmann, J. G. Okun, D. M. Koeller

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


During the last decades, efforts have been made to elucidate the complex mechanisms underlying neuronal damage in glutaryl-CoA dehydrogenase deficiency. A combination of in vitro and in vivo investigations have facilitated the development of several hypotheses, including the probable pathogenic role of accumulating glutaric acid and 3-hydroxyglutaric acid. However, there are still many shortcomings that limit an evidence-based approach to treating this inborn error of metabolism. Major future goals should include generation of a suitable animal model for acute striatal necrosis, investigation of the formation, distribution and exact intra- and extracellular concentrations of accumulating metabolites, a deeper understanding of striatal vulnerability, and systematic investigation of effects on cerebral gene expression during development and of the modulatory role of inflammatory cytokines.

Original languageEnglish (US)
Pages (from-to)843-849
Number of pages7
JournalJournal of inherited metabolic disease
Issue number6
StatePublished - 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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