Incidence of Menkes disease

Hum Genet. 1991 Feb;86(4):408-10. doi: 10.1007/BF00201846.


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 298,000 live-born babies. If the number of affected aborted fetuses are taken into account, the incidence is 1 Menkes per 254,000 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 x 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Denmark
  • France
  • Germany, West
  • Humans
  • Incidence
  • Infant, Newborn
  • Menkes Kinky Hair Syndrome / epidemiology*
  • Menkes Kinky Hair Syndrome / genetics
  • Netherlands
  • United Kingdom
  • X Chromosome