Human Genetics

, Volume 86, Issue 4, pp 408–410 | Cite as

Incidence of Menkes disease

  • T. Tønnesen
  • W. J. Kleijer
  • N. Horn
Original Investigations


We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976–87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298000 live-born babies. If the number of affected aborted fetuses are taken into account, the incidence is 1 Menkes per 254000 live-born babies. This incidence, which is 2–4 times lower than earlier published incidence figures, places Menkes disease as an extremely rare disease. The mutation rate for Menkes disease is estimated to be 1.96 × 10−6, based on the number of isolated Menkes cases born during the time period 1976–87 and the total number of newborn males during this time.


Internal Medicine Metabolic Disease Mutation Rate Rare Disease Abort Fetus 
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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • T. Tønnesen
    • 1
  • W. J. Kleijer
    • 2
  • N. Horn
    • 1
  1. 1.The John F. Kennedy InstituteGlostrupDenmark
  2. 2.Department of Clinical GeneticsErasmus UniversiteitDR RotterdamThe Netherlands

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