Prenatal and Postnatal Diagnosis of Menkes Disease, an Inherited Disorder of Copper Metabolism

  • T. Tønnesen
  • N. Horn

Summary

105 patients with Menkes disease have been diagnosed from 64Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of 64Cu from the medium for 16 Menkes patients. Second-trimester prenatal diagnosis has been performed in 80 pregnancies with male karyotype. These 64Cu-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 of 64Cu-uptake and chase results offers a better diagnostic potential than 64Cu-uptake per 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.

Keywords

Prenatal Diagnosis Chorionic Villus Male Fetus Copper Metabolism 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.

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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • T. Tønnesen
    • 1
  • N. Horn
    • 1
  1. 1.The John F. Kennedy InstituteGlostrupDenmark

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