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J Inherit Metab Dis. 2004;27(6):843-9.

Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.

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Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children's Hospital Heidelberg, D-69120 Heidelberg, Germany.


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.

[Indexed for MEDLINE]

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