Challenges for basic research in glutaryl‐CoA dehydrogenase deficiency

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...

Full description

Saved in:
Bibliographic Details
Published in:Journal of inherited metabolic disease 2004-01, Vol.27 (6), p.843-849
Main Authors: KÖlker, S., Strauss, K. A., Goodman, S. I., Hoffmann, G. F., Okun, J. G., Koeller, D. M.
Format: Article
Language:English
Subjects:
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
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1023/B:BOLI.0000045768.38073.22