Skip to main content
SpringerLink
Log in

A novel mutation as a cause of L-2-hydroxyglutaric aciduria

  • LETTER TO THE EDITORS
  • Published:
Journal of Neurology Aims and scope Submit manuscript

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

  1. Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1980) L-2-hydroxyglutaric aciduria; an inborn error of metabolism? J Inherit Metab Dis 3(4):109–112

    Article  CAS  PubMed  Google Scholar 

  2. Fujitake J, Ishikawa Y, Fujii H, Nishimura K, Hayakawa K, Inoue F, et al. (1999) L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J Neurol 246(5):378–382

    Article  CAS  PubMed  Google Scholar 

  3. Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, et al. (1992) L-2-hydroxyglutaric acidaemia: a novel inherited metabolic disease. Ann Neurol 32:66–71

    Article  CAS  PubMed  Google Scholar 

  4. D’Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M (1998) L-2-hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 40(11):727–733

    Article  PubMed  Google Scholar 

  5. Rio M, Vila O, Puig M (2005) L-2-hydroxyglutaric aciduria; clinical, neuroimaging, and neuropathological findings. Arch Neurol 62:666–670

    Article  Google Scholar 

  6. Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO (2004) L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Molec Genet 13(22):2803–2811

    Article  CAS  PubMed  Google Scholar 

  7. Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne MC, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. 101(48):16849–6854

Download references

Author information

Authors and Affiliations

  1. Dept. of Neurology, St. Vincent’s University Hospital, Elm Park, Dublin 4, Ireland

    Ged O’Connor MRCPI

  2. Beaumont Hospital, Dublin, Ireland

    Ged O’Connor MRCPI & O. Hardiman

  3. The Children’s University Hospital, Dublin, Ireland

    M. King

  4. VU University Medical Center, Amsterdam, The Netherlands

    G. Salomons & C. Jakobs

Authors
  1. Ged O’Connor MRCPI
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. King
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. G. Salomons
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. C. Jakobs
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. O. Hardiman
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ged O’Connor MRCPI.

Rights and permissions

Reprints and permissions

About this article

Cite this article

O’Connor, G., King, M., Salomons, G. et al. A novel mutation as a cause of L-2-hydroxyglutaric aciduria. J Neurol 256, 672–673 (2009). https://doi.org/10.1007/s00415-009-0107-z

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-009-0107-z

Keywords

Search

Navigation