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.
KeywordsInternal Medicine Metabolic Disease Mutation Rate Rare Disease Abort Fetus
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- Baerlocher K, Nadal D (1988) Das Menkes-Syndrom. Ergeb Inn Med Kinderheilk 57:79–144.Google Scholar
- Danks DM (1989) Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 1251–1268.Google Scholar
- Danks DM, Campbell PD, Stevens BJ, Mayne V, Cartwright E (1972) Menke's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 50:188–201.Google Scholar
- Demographic Statistics (1989) Eurostat, Luxembourg, pp 107, 150, 208, 237.Google Scholar
- Horn N (1976) Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease. Lancet I:1156–1158.Google Scholar
- McKusick VA (1988) Mendelian inheritance in man, 8th edn. Johns Hopkins University Press, Baltimore, London.Google Scholar
- Tønnesen T, Gerdes A-M, Damsgaard E, Miny P, Holzgreve W, Søndergaard F, Horn N (1989) First trimester diagnosis of Menkes disease. Affected male fetuses with low copper values in chorionic villi. Prenat Diagn 9:159–165.Google Scholar
- Vogel F, Motulsky AG (1986) Human genetics-problems and approaches, 2nd edn. Springer, Berlin Heidelberg New York.Google Scholar