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How many people are affected by or at risk for Menkes disease?

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Menkes disease and its variants are estimated to affect 1 of every 100,000 newborns.1

Who is at risk?

Menkes is more common in males than in females.

The ATP7A gene that causes Menkes is located on the X chromosome. Females have two X chromosomes. So if the ATP7A gene on one chromosome is altered, the ATP7A gene on the other X chromosome can take over. Males have only one copy of ATP7A, so the body has no way to compensate if that gene is affected. The chances of having both ATP7A genes with a mutation are low, so females are affected less often than males.1

A son receives only one X chromosome, always from his mother. This means that sons of women carrying a mutated ATP7A gene are at high risk for Menkes disease. A father with the Menkes gene cannot pass it on to his sons, but will definitely pass it on to his daughters because daughters receive one X chromosome from each parent. If both father and mother have the mutated ATP7A gene, then the daughter might have symptoms of Menkes.

In about one-third of cases, there is no history of Menkes disease in the family. In these instances, Menkes disease is caused by a new or spontaneous mutation of the ATP7A gene.1

  1. National Library of Medicine, Genetics Home Reference. (2009). Menkes syndrome. Retrieved May 22, 2012, from [top]

Last Reviewed: 08/14/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology