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Incidence of Menkes disease

✍ Scribed by T. Tønnesen; W. J. Kleijer; N. Horn

Book ID: 104661351
Publisher: Springer
Year: 1991
Tongue: English
Weight: 305 KB
Volume: 86
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00201846

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✦ Synopsis

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 • 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.

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