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Wilson’s disease is due to an inherited defect in the ATP7B gene, which causes copper to accumulate, mostly in the liver and brain. Small amounts of the mineral is needed to stay healthy, but too much can result in brain damage, liver failure or even death.
It is a recessive genetic disorder where both parents must pass on the same abnormal ATP7B gene even if they themselves do not have signs of the disease. People with a family history of Wilson’s disease, especially so-called first-degree relatives like parents or siblings, have a higher chance of getting it. Once it is diagnosed, family members will be asked to check for the disease too.
Signs of the disease manifest in various organs, usually appearing only when copper has built up in excessive amounts, mostly in the liver, eyes, brain and the central nervous system.