Advertisement

Humangenetik

, Volume 29, Issue 2, pp 171–175 | Cite as

Extra-hepatic storage of copper

A male foetus suspected of Menkes' disease
  • K. Heydorn
  • Else Damsgaard
  • Nina Horn
  • Margareta Mikkelsen
  • Inge Tygstrup
  • S. Vestermar
  • J. Weber
Clinical Case Reports

Summary

The distribution of copper among the organs of an aborted, male foetus, expected to develop Menkes' syndrome, was entirely different from the distribution in 4 normal foetuses. Copper concentrations determined by neutron activation analysis showed a considerably reduced content in the liver, but increased concentrations in the other organs analysed; total foetal copper was normal.

Keywords

Copper Internal Medicine Metabolic Disease Activation Analysis Neutron Activation 
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. Damsgaard, E., Heydorn, K.: Simultaneous determination of arsenic, copper, manganese, selenium, and zinc in biological materials by neutron activation analysis. Risø Report No. 326 (1975)Google Scholar
  2. Danks, D. M., Campbell, P. E., Stevens, B. J., Mayne, V., Cartwright, E.: Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 50, 188–201 (1972a)Google Scholar
  3. Danks, D. M., Campbell, P. E., Walker-Smith, J., Stevens, B. J., Gillespie, J. M., Blomfield, J., Turner, B.: Menke's kinky-hair syndrome. Lancet 1972b I, 1100–1103Google Scholar
  4. Danks, D. M., Cartwright, E., Stevens, B. J.: Menkes' steely-hair (kinky-hair) disease. Lancet 1973b I, 891Google Scholar
  5. Danks, D. M., Cartwright, E., Stevens, B. J., Townley, R. R. W.: Menkes' kinky hair disease: Further definition of the defect in copper transport. Science 179, 1140–1142 (1973a)Google Scholar
  6. Fazekas, I. G., Romhányi, I., Rengei, B.: Über den Kupfergehalt der fötalen Organe. Kisérl. Orvostud. 15, 230–238 (1963)Google Scholar
  7. Heydorn, K., Damsgaard, E.: Simultaneous determination of arsenic, maganese, and selenium in biological materials by neutron activation analysis. Talanta 20, 1–11 (1972)Google Scholar
  8. Iyengar, L., Apte, S. V.: Nutrient stores in human foetal livers. Brit. J. Nutr. 27, 313–317 (1972)Google Scholar
  9. Menkes, J. H., Alter, M., Steigleder, G. K., Weakley, D. R., Sung, J. H.: A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29, 764–779 (1962)Google Scholar
  10. Møllekær, A. M.: Kinky hair syndrome. Acta paediat. scand. 63, 289–292 (1974)Google Scholar
  11. Reske-Nielsen, E.: Menkes' disease: Is the etiology a copper transport defect? Acta paediat. scand. 63, 292–296 (1974)Google Scholar
  12. Ylöstalo, P., Reinilä, M.: Serum copper in normal and complicated pregnancies compared with urinary oestrogens. Ann. Chir. Gynaec. Fenn. 62, 117–120 (1973)Google Scholar

Copyright information

© Springer-Verlag 1975

Authors and Affiliations

  • K. Heydorn
    • 1
  • Else Damsgaard
    • 1
  • Nina Horn
    • 2
  • Margareta Mikkelsen
    • 2
  • Inge Tygstrup
    • 3
  • S. Vestermar
    • 4
  • J. Weber
    • 5
  1. 1.Isotope DivisionResearch Establishment RisøRoskilde
  2. 2.Chromosome LaboratoryJohn F. Kennedy InstituteGlostrup
  3. 3.Department of Pediatric PathologyRigshospitaletCopenhagen
  4. 4.Department of PediatricsGlostrup HospitalGlostrup
  5. 5.Department of ObstetricsGlostrup HospitalGlostrup

Personalised recommendations