Skip to main content
SpringerLink
Log in

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

  • Short Communication
  • SSIEM Award
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Bross, P., Engst, S., Strauss, A. W., Kelly, D. P., Rasched, I. and Ghisla, S. Characterization of wild-type and an active site mutant of human medium-chain acyl-CoA dehydrogenase after expression inE. coli.J. Biol. Chem. 265 (1990) 7116–7119

    PubMed  Google Scholar 

  • Kelly, D. P., Kim, J. J., Billadello, J. J., Hainline, B. E., Chu, T. W. and Strauss, A. W. Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.Proc. Natl. Acad. Sci. USA 84 (1987) 4068–4072

    PubMed  Google Scholar 

  • Kølvraa, S., Gregersen, N., Christensen, E. and Hobolth, N.In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: Evidence for a defect in general acyl-CoA dehydrogenase.Clin. Chim. Acta 126 (1982) 53–67

    PubMed  Google Scholar 

  • Roe, C. R. and Coates, P. M. Acyl-CoA dehydrogenase deficiencies. In: Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. (eds.),The Metabolic Basis of Inherited Disease, McGraw-Hill, New York, 1989, pp. 889–914

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Molecular Genetic Laboratory, University Department of Clinical Chemistry, Aarhus Kommunehospital and Skejby Sygehus, 8200, Aarhus N, Denmark

    N. Gregersen, B. S. Andresen, V. Winter & N. Rüdiger

  2. Faculty of Biology, University of Konstanz, 7760, Konstanz, Germany

    P. Bross, S. Engst & S. Ghisla

  3. Section of Clinical Genetics, University Department of Paediatrics and of Gynaecology and Obstetrics, Rigshospitalet, 2100, Copenhagen Ø, Denmark

    E. Christensen

  4. Department of Pediatrics, Washington University School of Medicine, 63110, St Louis, Missouri, USA

    D. Kelly & A. W. Strauss

  5. Institute of Human Genetics, University of Aarhus, 8000, Aarhus C, Denmark

    S. Kølvraa & L. Bolund

  6. Department of Molecular Biology and Biotechnology, The University of Sheffield, S10 2TN, Sheffield, UK

    A. Blakemore, D. Curtis & P. Engel

Authors
  1. N. Gregersen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. B. S. Andresen
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. P. Bross
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. V. Winter
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. N. Rüdiger
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. S. Engst
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. S. Ghisla
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. E. Christensen
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. D. Kelly
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. A. W. Strauss
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. S. Kølvraa
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. L. Bolund
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. A. Blakemore
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. D. Curtis
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. P. Engel
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gregersen, N., Andresen, B.S., Bross, P. et al. Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 14, 314–316 (1991). https://doi.org/10.1007/BF01811691

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01811691

Keywords

Search

Navigation