Challenges for basic research in glutaryl-CoA dehydrogenase deficiency

J Inherit Metab Dis. 2004;27(6):843-9. doi: 10.1023/B:BOLI.0000045768.38073.22.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / pathology*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Animals
  • Glutarates / metabolism
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Neostriatum / pathology
  • Neurons / pathology
  • Oxidoreductases Acting on CH-CH Group Donors / deficiency*

Substances

  • 3-hydroxyglutaric acid
  • Glutarates
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase
  • glutaric acid