Article: Wilson disease

What is Wilson disease?

Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body.

Wilson disease causes the body to retain copper, particularly in the liver, brain, and eyes. Symptoms of Wilson disease usually appear between the ages of 6 and 40, but most often begin during the teenage years. In children, liver disease is the most common feature. Signs and symptoms of liver disease include yellowing of the skin or the whites of the eye (jaundice), fatigue, loss of appetite, and abdominal swelling. Psychiatric and nervous system problems are common in young adults with Wilson disease. Signs and symptoms can include clumsiness, trembling, difficulty walking, speech problems, deteriorating school work, depression, anxiety, and mood swings. In many individuals with Wilson disease, copper deposits form a green-to-brownish ring, called the Kayser-Fleischer ring, around the front surface of the eye (the cornea).

How common is Wilson disease?

Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals.

What genes are related to Wilson disease?

Mutations in the ATP7B gene cause Wilson disease.

The ATP7B gene makes a protein important for copper transport and the elimination of excess copper from the body. The mutated gene prevents the proper functioning of this transport protein, allowing copper to accumulate in the liver, brain, and other tissues.

How do people inherit Wilson disease?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.