Children's Hospital Colorado

Wilson Disease

What is Wilson disease?

Wilson disease is a genetic syndrome that results in an inability to properly metabolize, process and excrete copper. As a result, copper builds up in various tissues including the liver, the eyes and the brain. The excess copper can result in life-threatening organ damage.

What causes Wilson disease?

Wilson disease is genetic, meaning that children inherit it from their parents. Specifically, Wilson disease is an autosomal recessive disorder resulting from a mutation in the ATP7B gene. Genes make up our deoxyribonucleic acid (DNA), which acts as a blueprint for the body, telling it how to form and function. Wilson disease occurs in about one out of every 30,000 live births.