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Incidence of Menkes disease

T Tønnesen1, W J Kleijer, N Horn

  • 1John F. Kennedy Institute, Glostrup, Denmark.

Human Genetics
|February 1, 1991
PubMed

Insights

The incidence of Menkes disease is 1 in 298,000 live births, significantly lower than previously reported. This rare genetic disorder affects copper metabolism, impacting male infants.

Area of Science:

  • Genetics
  • Pediatrics
  • Metabolic Disorders

Background:

  • Menkes disease is a rare X-linked recessive disorder.
  • It is caused by mutations in the ATP7A gene, affecting copper transport.
  • Previous incidence estimates varied significantly.

Purpose of the Study:

  • To accurately calculate the incidence of Menkes disease in five European countries.
  • To compare current incidence rates with historical data.
  • To estimate the mutation rate for Menkes disease.

Main Methods:

  • Retrospective analysis of Menkes disease patients born between 1976-1987.
  • Data collected from Denmark, France, The Netherlands, the United Kingdom, and West Germany.
  • Calculation of incidence based on live-born patients and estimated affected fetuses.

Main Results:

  • The combined incidence of Menkes disease was 1 per 298,000 live births.
  • Including affected aborted fetuses, the incidence rose to 1 per 254,000 live births.
  • These figures are 2-4 times lower than previously published estimates.

Conclusions:

  • Menkes disease is an extremely rare condition.
  • The calculated incidence provides a more accurate understanding of its prevalence.
  • The estimated mutation rate for Menkes disease is 1.96 x 10(-6).

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