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Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.

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

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Amino Acid Metabolism, Inborn ErrorsAnimalsGlutaratesGlutaryl-CoA DehydrogenaseHumansNeostriatumNeuronsOxidoreductases Acting on CH-CH Group DonorsJournal ArticleReview

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S Kölker, K A Strauss, S I Goodman, G F Hoffmann, J G Okun, D M Koeller. 2004. Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.. https://doi.org/10.1023/b%3Aboli.0000045768.38073.22

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