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.
Original language | English (US) |
---|---|
Pages (from-to) | 843-849 |
Number of pages | 7 |
Journal | Journal of inherited metabolic disease |
Volume | 27 |
Issue number | 6 |
DOIs | |
State | Published - 2004 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)