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Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism

  • Prenatal And Perinatal Diagnosis
  • Published:
Journal of Inherited Metabolic Disease

Summary

105 patients with Menkes disease have been diagnosed from64Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of64Cu from the medium for 16 Menkes patients. Second-trimester prenatal diagnosis has been performed in 80 pregnancies with male karyotype. These64Cu-uptake results show some overlap between the upper end of the normal range and the lower end of the Menkes range. Results are presented to show that a combination of64Cu-uptake and chase results offers a better diagnostic potential than64Cu-uptakeper se. Chorionic villus copper values from 53 first-trimester prenatal diagnoses are presented. Maternal deciduum from some of these pregnancies contain similar high amounts of copper as found in the chorionic villus samples from affected fetuses.64Cu-uptake in cultured chorionic villi from affected fetuses and unaffected fetuses is not discriminatory. Chase results seem however to offer a better diagnostic potential.

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References

  • Beratis, N. G., Price, P., La Badie, G. and Hirschhorn, K.64Cu metabolism in Menkes and normal cultured skin fibroblasts.Pediatr. Res. 12 (1978) 699–702

    Google Scholar 

  • Camakaris, J., Danks, D. M., Ackland, L., Cartwright, E., Borger, P. and Cotton, R. G. H. Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants.Biochem. Genet. 18 (1980) 117–131

    Google Scholar 

  • Danks, D. M., Campbell, P. E., Stevens, B. J., Mayne, V. and Cartwright, E. Menkes kinky hair syndrome. An inherited defect in copper absorption with widespread effects.Pediatrics 50 (1972) 188–201

    Google Scholar 

  • Goka, T. J., Stevenson, R. E., Hefferan, P. M. and Howell, R. R. Menkes disease: A biochemical abnormality in cultured human fibroblasts.Proc. Natl. Acad. Sci. USA 73 (1976) 604–606

    Google Scholar 

  • Horn, N. Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease.Lancet 1 (1976) 1156–1158

    Google Scholar 

  • Horn, N. Menkes X-linked disease: Prenatal diagnosis of hemizygous males and heterozygote females.Prenat. Diagn. 1 (1981) 107–120

    Google Scholar 

  • Horn, N. Menkes' X-linked disease: Prenatal diagnosis and carrier detection.J. Inher. Metab. Dis. 6 suppl. 1 (1983) 59–62

    Google Scholar 

  • Horn, N. Prenatal Diagnosis of Menkes Disease. In Gladtke, E., Heimann, G., Lombeck, I. and Eckert, I. (Eds.)Spurenelemente. Stoffwechsel, Ernährung, Imbalancen, Ultra-Trace-Elemente, Georg Thieme Verlag, Stuttgart, 1985, pp. 67–72

    Google Scholar 

  • Horn, N., Søndergaard, F., Damsgaard, E. and Heydorn, K. Prenatal diagnosis of Menkes disease by direct copper analysis of trophoblast tissue. In Fraccaro, M., Simoni, G. and Brambati, B. (Eds.)First Trimester Fetal Diagnosis, Springer-Verlag, Heidelberg, 1985, pp. 251–255

    Google Scholar 

  • Søndergaard, F., Kristensen, M. and Tommerup, N. High resolution chromosomes from first trimester trophoblast cultures.Prenat. Diagn. 5 (1985) 291–294

    Google Scholar 

  • Tønnesen, T., Horn, N., Søndergaard, F., Mikkelsen, M., Boué, J., Damsgaard, E. and Heydorn, K. Measurement of copper in chorionic villi for first-trimester diagnosis of Menkes' disease.Lancet 1 (1985) 1038–1039

    Google Scholar 

  • Tønnesen, T., Müller-Schauenburg, G., Damsgaard, E. and Horn, N. Copper measurement in a muscle biopsy. A possible method for postmortem diagnosis of Menkes disease.Clin. Genet. 29 (1986) 258–261

    Google Scholar 

  • Tønnesen, T., Horn, N., Søndergaard, F., Jensen, O. A., Gerdes, A-M., Girard, S. and Damsgaard, E. Experience with first trimester prenatal diagnosis of Menkes disease.Prenat. Diagn. 7 (1987a) 497–509

    Google Scholar 

  • Tønnesen, T., Silengo, M., Gerdes, A-M., Hansen, J. C., Reske-Nielsen, E., Franceschini, F. and Horn, N. Postmortem Menkes diagnosis from carrier testing of female relatives.Clin. Genet. 32 (1987b) 393–397

    Google Scholar 

  • Tønnesen, T., Gerdes, A-M., Damsgaard, E., Miny, P., Holzgreve, W., Søndergaard, F. and Horn, N. First trimester diagnosis of Menkes disease: intermediate copper values in chorionic villi from three affected male fetuses.Prenat. Diagn. 9 (1989) 159–165

    Google Scholar 

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Authors and Affiliations

  1. The John F. Kennedy Institute, Gl. Landevej 7, DK-2600, Glostrup, Denmark

    T. Tønnesen & N. Horn

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  1. T. Tønnesen
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  2. N. Horn
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Tønnesen, T., Horn, N. Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism. J Inherit Metab Dis 12 (Suppl 1), 207–214 (1989). https://doi.org/10.1007/BF01799296

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  • DOI: https://doi.org/10.1007/BF01799296

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