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Patient Support and Disease Information

Find out more about Wilson’s disease, its effects, how it's diagnosed and treatment options.

About Wilson's Disease

Wilson’s disease (WD) is a genetic disease that is characterised by the gradual accumulation of copper in the body. Affected individuals are unable to remove the excess copper in urine and faeces.1

Copper enters our body from the food we eat and although the body needs copper for our cells to work properly, a normal diet contains more copper than the body needs.1
In people without Wilson’s disease, the liver processes the necessary amount and excretes the excess copper into the bile, which is then removed from the body in faeces.1

About 1 in every 30,000 of the worldwide population have a genetic mutation that affects the important copper transport mechanisms causing Wilson’s disease.1,2

Inheriting Wilson's Disease

There are many different mutations associated with the development of Wilson’s disease, but all affect a gene on chromosome 13 that codes for a protein called ATP7B. Without the mutations, this protein allows for copper to be transported safely around the body and removed when in excess. In individuals with Wilson’s disease, however, the mutations in the gene mean the protein does not function correctly.1,2

Wilson’s disease is an autosomal recessive genetic disorder. This means that for a person to have Wilson’s disease they would have inherited two mutated genes (one from each parent) on each copy of chromosome 13.2

Wilson’s disease can be effectively treated with a low copper diet and medicines that bind to copper and carry it out of the body. In this way, copper levels in the body are maintained to acceptable levels.1

Find Out More About Wilson's Disease

Find out more about Wilson’s disease, its effects, how it’s diagnosed and treatment options.

Symptoms & Diagnosis

Wilson’s disease is a genetic disease that prevents the body from properly transporting and removing excess copper. Without effective treatment, copper will build up in tissues of the body, including the liver and central nervous system (CNS).1

Treatment Options

Wilson’s disease can be effectively treated with a low copper diet and medicines that bind to copper and carry it out of the body. In this way, copper levels in the body are maintained to acceptable levels.1

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Symptoms of Wilson's Disease

Wilson’s disease leads to a wide spectrum of clinical manifestations. These signs and symptoms usually occur between the ages of 5 and 40, although some people develop symptoms earlier or later in life.3
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