Wilson’s disease

Wilson disease is a potentially treatable, inherited disorder of copper metabolism that is characterised by the pathological accumulation of copper.

Why copper accumulates?

In Wilson disease, copper accumulates in some organs (liver mainly) because of mutations in the ATP7B copper transporter. Normally ATP7B takes the copper from liver cells (hepatocytes) and bring it into bile ducts. It also load copper ions into the ceruloplasmin which is then secreted into the blood to deliver copper to relevant body parts.

The deficiency in ATP7B results in an accumulation of particularly toxic copper (“free copper”) which is not ceruloplasmin-bound in the liver and the central nervous system. It is that “free copper” that MexBrain targets specifically.

Where does it come from?

Wilson disease is inherited in an autosomal recessive manner, meaning that all patients have received a copy of the mutated ATP7B gene from both their parents.

1 / 30,000 people have Wilson Disease

25,000 patients in Europe and the US

First described in 1912 by Dr. Samuel Wilson

Key symptoms

  • 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

Risk factors

You can be at increased risk of Wilson’s disease if your parents or siblings have the condition. Ask your doctor whether you should undergo genetic testing to find out if you have Wilson’s disease. Diagnosing the condition as early as possible dramatically increases the chances of successful treatment.


  • Scarring of the liver (cirrhosis). As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver, making it more difficult for the liver to function.
  • Liver failure. This can occur suddenly (acute liver failure), or it can develop slowly over years. A liver transplant might be a treatment option.
  • Persistent neurological problems. Tremors, involuntary muscle movements, clumsy gait and speech difficulties usually improve with treatment for Wilson’s disease. However, some people have persistent neurological difficulty despite treatment.
  • Kidney problems. Wilson’s disease can damage the kidneys, leading to problems such as kidney stones and an abnormal number of amino acids excreted in the urine.
  • Psychological problems. These might include personality changes, depression, irritability, bipolar disorder or psychosis.
  • Blood problems. These might include destruction of red blood cells (hemolysis) leading to anemia and jaundice.


  • Eye exam. Your provider uses a special lamp (a slit lamp) to check for brown Kayser-Fleischer rings in your eyes.
  • Blood tests. These can check the copper level in your blood and also detect any liver problems.
  • 24-hour urine test. This measures the amount of copper in your urine over 24 hours.
  • Liver biopsy. A small sample of your liver is removed for testing.
  • Genetic testing. A blood test can identify the abnormal genes that cause Wilson disease.

Current treatements

Treatment will depend on your symptoms, age, and general health. It will also depend on how severe the condition is. There is no cure for Wilson disease. Lifelong treatment is needed to reduce the amount of copper in your body.

Treatment may include:

  • Taking medicines to help your body’s organs and tissues get rid of extra copper (copper-chelating medicines)
  • Reducing the amount of copper you get through food
  • Taking zinc supplements. Zinc prevents your body from absorbing copper from your diet.
  • Getting extra vitamin B6
  • Taking medicines to treat symptoms such as muscle tremors or stiffness
  • Getting a liver transplant, if you have severe liver damage

Early treatment can help prevent severe problems.