Abnormal Features of the Metabolism and Cellular Biology of Copper in Menkes Disease

Their Use in the Post and Antenatal Diagnosis
  • P. Guiraud
  • M. J. Richard
  • A. Favier

Abstract

Menkes disease was described for the first time in 1962 by J.H. Menkes (1). This is an X-linked recessive disorder affecting copper metabolism. This disease appears as a convulsive encephalopathy, the main clinical manifestations being a neurological degeneration, a mental retardation, a convulsive state and “kinky” depigmented hairs. A fatal issue commonly occurs before the age of five. Some biological parameters are significantly modified: serum copper and ceruloplasmin levels are dramatically decreased. Cellular uptake and retention of copper are abnormally increased in enterocytes, lymphoblasts and fibroblasts. The exon structure of the Menkes gene has been recently determined. This gene encodes a predicted copper binding P-type ATPase (2–4).

Keywords

Chorionic Villus Wilson Disease Copper Metabolism Antenatal Diagnosis Menkes Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    J.H. Menkes, M. Alter, G. Steigleder, D.R. Weakley and J.H. Sun, Pediatrics 29, 764–779 (1962).Google Scholar
  2. 2.
    J. Chelly, Z. Turner, T. Tonnesen, A. Petterson, Y. Ishikawa-Brush, N. Tommerup, N. Horn and A.P. Monaco, Nature Genet. 3, 14–19 (1993).CrossRefGoogle Scholar
  3. 3.
    J.F.B. Mercer, J. Livingstone, B. Hall et al., Nature Genet. 3, 20–25 (1993).CrossRefGoogle Scholar
  4. 4.
    C. Vulpe, B. Levinson, S. Whitney, S. Packman and J. Gitschier, Nature Genet. 3, 7–13 (1993).CrossRefGoogle Scholar
  5. 5.
    E.J. Underwood, in Trace Elements in Human and Animal Nutrition, 4th edn., New York: Academic Press, pp. 56–108(1977).Google Scholar
  6. 6.
    D.M. Miller, G.R. Buettner and S.D. Aust, Free Rad. Biol. Med. 8, 95–108 (1990).CrossRefGoogle Scholar
  7. 7.
    E.R. Stadtman, Free Rad. Biol. Med. 9, 315–325 (1990).CrossRefGoogle Scholar
  8. 8.
    D.M. Danks, E. Cartwright, E.J. Stevens and R.R.W. Townley, Science 179, 1140–1142 (1973).CrossRefGoogle Scholar
  9. 9.
    D.M. Danks, P.E. Campbell, B.J. Stevens, V. Mayne and E. Cartwright, Pediatrics 50, 188–201 (1972).Google Scholar
  10. 10.
    N. Horn, T. Tonnesen and Z. Turner, Brain Pathol. 2, 351–362 (1992).CrossRefGoogle Scholar
  11. 11.
    B. Levinson, J. Gitschier, C. Vulpe, S. Whitney, S. Yang and S. Packman, Nature Genet. 3, 6 (1993).CrossRefGoogle Scholar
  12. 12.
    D.M. Danks, in The metabolic basis of inherited disease, J.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle, eds., McGraw-Hill, New York, pp. 1411–1431 (1989).Google Scholar
  13. 13.
    K. Heydorn, E. Damsgaard, N. Horn, M. Mikkelsen, I. Tygstrup, S. Vestermark and J. Weber, Hum. Genet. 29, 171–175(1975).CrossRefGoogle Scholar
  14. 14.
    N. Horn, K. Heydorn, E. Damsgaard, I. Tygstrup and S. Vestermark, Clin. Genet. 14, 186–187 (1978).CrossRefGoogle Scholar
  15. 15.
    N. Horn and O.A. Jensen, Ultrastructural pathol. 1, 237–242 (1980).CrossRefGoogle Scholar
  16. 16.
    P.C. Bull, G.R. Thomas, J.M. Rommens, J.R. Forbes and D.W. Cox, Nature Genet. 5, 327–337 (1993).CrossRefGoogle Scholar
  17. 17.
    K. Petrukhin, S.G. Fischer, M. Pirastu et al., Nature Genet. 5, 338–343 (1993).CrossRefGoogle Scholar
  18. 18.
    R.E. Tanzi, K. Petrukhin, I. Chernov et al., Nature Genet. 5, 344–350 (1993).CrossRefGoogle Scholar
  19. 19.
    T. Tonnesen, A.M. Gerdes, E. Damsgaard, P. Miny, W. Holzgreve, F. Sondergaard and N. Horn, Prenatal Diag. 9, 159–165 (1989).CrossRefGoogle Scholar
  20. 20.
    N. Horn, J. Inher. Metab. Dis. 6, 59–62 (1983).CrossRefGoogle Scholar
  21. 21.
    Z. Turner, T. Tonnesen and N. Horn, J. Inher. Metab. Dis. 17, 267–270 (1994).CrossRefGoogle Scholar
  22. 22.
    Z. Turner, B. Vural, T. Tonnesen, J. Chelly, A.P. Monaco and N. Horn, Genomics 26, 437–442 (1995).CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1996

Authors and Affiliations

  • P. Guiraud
    • 1
  • M. J. Richard
    • 1
  • A. Favier
    • 1
  1. 1.Laboratoire de Biochimie CCHU A. MichallonGrenoble Cedex 9France

Personalised recommendations