Wilson Disease

Metabolic, Biliary Atresia & Related Diseases


Wilson disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.

Watch here our video on the patient perspective in Wilson disease:

How to live with Wilson disease

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Copper plays a key role in the development of healthy nerves, bones, collagen and scin. Normally, copper is absorbed from your food, and excess is excreted through a substance produced in your liver (bile). In people with Wilson disease, copper isn’t eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson disease is treatable, and many people with the disorder live normal lives.

Wilson disease is present at birth, but signs and symptoms don’t appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary widely and can include:
  • Fatigue, lack of appetite or abdominal pain
  • A yellowing of the skin and the whites of the eye (jaundice)
  • Golden-brown eye discoloration (Kayser-Fleischer rings)
  • Fluid buildup in the legs or abdomen
  • Problems with speech, swallowing or physical coordination
  • Uncontrolled movements or muscle stiffness


The diagnosis of Wilson disease can be challenging and doctors rely on a combination of symptoms and test results to make the diagnosis.
These may include:
Blood and urine tests, eye exam, removing a sample of liver tissue for testing (biopsy), genetic testing, or brain MR-imaging.


The goal of medical treatment for Wilson disease is to reduce the damage caused by copper. Treatment is lifelong and may include:
  • Copper chelators (D-Penicillamine and Trientine) that pick up the copper and eliminate it in the urine.
  • Zinc salts that increase the digestive elimination of copper in the stool.
    In severe cases, your doctor might suggest liver transplantation.
    Doctors will typically recommend that you limit the amount of copper you consume in your diet and avoid multivitamins that contain copper. You might also want to have your tap water’s copper levels tested. Foods that contain high amounts of copper include: Liver, shellfish, mushrooms, nuts, and chocolate.