Journal of Inherited Metabolic Disease

, Volume 12, Issue 1, pp 64–71 | Cite as

Cultured skin fibroblasts: Useful for diagnosis of Wilson's disease?

  • G. J. Van den Berg
  • C. J. A. Van den Hamer
  • R. J. Meijer
  • T. U. Hoogenraad


The copper content of and radiocopper uptake in fibroblast cultures were studied to evaluate their usefulness for the diagnosis of Wilson's disease. We used methods closely related to those described in the literature, and applied these to cell lines of six patients with Wilson's disease and 12 controls. The results were:
  1. (1)

    The copper content of the cytosol of skin fibroblasts derived from patients with Wilson's disease was lower than that of controls when the cells were grown in a medium with a low copper concentration (0.7 µmol L−1); increased copper concentration (157 µmol L−1 in the medium failed to demonstrate any difference between normal fibroblasts and those derived from patients with Wilson's disease.

  2. (2)

    Radiocopper uptake studies did not differentiate between normal fibroblasts and fibroblasts from patients with Wilson's disease.


We conclude that the cytosolic copper content of fibroblasts grown in a low copper medium is a potential diagnostic tool in Wilson's disease. At present not all controls can be distinguished from the Wilson cells; ways must be sought, therefore, of improving the technique.


Public Health Copper Internal Medicine Cytosol Metabolic Disease 
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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • G. J. Van den Berg
    • 1
  • C. J. A. Van den Hamer
    • 1
  • R. J. Meijer
    • 2
  • T. U. Hoogenraad
    • 3
  1. 1.Interfaculty Reactor InstituteDelft University of TechnologyDelftThe Netherlands
  2. 2.Department of Neurology‘St-Elisabeth’ HospitalVenrayThe Netherlands
  3. 3.Department of NeurologyState University HospitalUtrechtThe Netherlands

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