Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute copper in food from the intestines into the bloodstream for use in other areas. As a result, the brain and other parts of the body do not get enough copper.
Copper can build up in the small intestine and kidneys, but low copper levels in other areas can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function.
Menkes syndrome is inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% chance of developing the disease and 50% of her daughters will be a carrier.