Challenges for basic research in glutaryl-CoA dehydrogenase deficiency

Stefan Kölker, K. A. Strauss, S. I. Goodman, G. F. Hoffmann, J. G. Okun, David Koeller

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)843-849
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume27
Issue number6
DOIs
StatePublished - 2004

Fingerprint

Corpus Striatum
Inborn Errors Metabolism
Research
Necrosis
Animal Models
Cytokines
Gene Expression
Glutaric Acidemia I
In Vitro Techniques
glutaric acid
3-hydroxyglutaric acid

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Challenges for basic research in glutaryl-CoA dehydrogenase deficiency. / Kölker, Stefan; Strauss, K. A.; Goodman, S. I.; Hoffmann, G. F.; Okun, J. G.; Koeller, David.

In: Journal of Inherited Metabolic Disease, Vol. 27, No. 6, 2004, p. 843-849.

Research output: Contribution to journalArticle

Kölker, Stefan ; Strauss, K. A. ; Goodman, S. I. ; Hoffmann, G. F. ; Okun, J. G. ; Koeller, David. / Challenges for basic research in glutaryl-CoA dehydrogenase deficiency. In: Journal of Inherited Metabolic Disease. 2004 ; Vol. 27, No. 6. pp. 843-849.
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