What causes Wilson’s disease?
Wilson’s disease is caused by a faulty gene that stops the liver removing extra copper.
We all need a small amount of copper in our bodies. We usually get more than we need from our food. The liver gets rid of all the extra copper that we do not need.
In Wilson’s disease, a problem with a gene means that the liver cannot get rid of the extra copper. So the copper builds up in the liver and causes damage. Over time, this copper overload can also affect the brain and cause problems there.
On this page you can find out more about what typically happens to copper in the body. And what is different in Wilson’s disease.
The information on this page is for:
- Adults and children with Wilson’s disease or suspected Wilson’s disease
- Parents of children with Wilson’s disease or suspected Wilson’s disease
- Family, friends, carers, and healthcare professionals
On this page:
Why does my body need copper?
Copper helps the body to make blood cells.
Copper is an essential mineral. But our bodies only need a tiny amount of it.
It is important for helping us to make blood cells. This includes red blood cells that carry oxygen in our bodies and white blood cells that help our immune system.
There is also some evidence that copper helps with:
- growth
- brain development
- keeping bones strong
What usually happens to the copper?
The liver processes copper from food, keeping what the body needs and removing the rest.
We need a very small amount of copper. We get this from our food. After we eat, the liver processes the copper from our food.
The liver keeps a tiny bit of copper that it needs. Then the Wilson’s protein helps to remove excess copper.
The Wilson’s protein has lots of different names. You might hear it called:
- the ATP7B protein
- the Wilson’s disease protein
- copper-transporting ATPase
The liver makes the Wilson’s protein using instructions from a gene called ATP7B.
Where does the copper go after the liver processes it?
The liver sends copper to where it is needed or removes it as waste.
The Wilson’s protein helps some copper to stick to another protein called Caeruloplasmin. Caeruloplasmin carries copper in the blood to where it is needed.
But there is more copper left over. The Wilson’s protein helps move this copper into bile.
Bile is a liquid made by the liver. It carries waste out of the body in poo.
What is different in Wilson’s disease?
In Wilson’s disease, a faulty gene means excess copper cannot leave the liver.
In Wilson’s disease, there is a problem with the ATP7B gene. This means the instructions for making the Wilson’s disease protein are wrong. The protein does not get made or is not put together properly. So it does not work.
This means copper gets stuck in your liver and starts to build up.
What problems can copper build up cause?
Too much copper damages the liver and can affect the brain and mental health.
Over time, copper builds up in the liver. This can lead to inflammation (hepatitis), and then scarring (fibrosis). Without treatment this can cause serious liver damage (cirrhosis).
Find out more about the stages of liver disease.
The copper can also start to leak out of the liver and build up in other parts of the body, including the brain.
Brain symptoms can include problems with the nervous system and with mental health.
Sometimes serious liver disease can happen very suddenly. This is known as acute liver failure. You might hear it called ALF.
Find out more about acute liver failure and Wilson’s disease.
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How Liver UK can help
A diagnosis of liver disease can be worrying, and you may have a lot of questions.
We're here for you and for your family and friends. Whether you have questions or just need someone to listen, we can help.
Everyone’s experience of Wilson’s disease will be different. Always talk to your specialist medical team for personal advice.
Our information aims to be clear, up-to-date, and useful. We work with people living with liver disease and clinicians to make our information.
The main source for this information is: EASL-ERN clinical practice guidelines on Wilson’s disease, 2025
This content was last reviewed: December 2025
We would like to thank all the patients and families who helped to create this information. Thank you to our clinical reviewer, Dr William Griffiths, consultant hepatologist, Cambridge University Hospitals NHS foundation trust.
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