Wilson disease

Overview

What is Wilson disease?

Wilson disease is an inherited disorder caused by mutations in the ATP7B gene. The ATP7B gene makes a protein that helps the liver process and get rid of excess copper. Individuals with Wilson disease are not able to excrete excess copper and, as a result, copper builds up in the liver, brain, kidney and eyes. If left untreated, Wilson disease causes very serious health problems that can lead to liver failure, brain damage and death.

Signs and symptoms of Wilson disease typically appear between 5 and 35 years of age; however, symptoms can appear as late as 70 years. Wilson disease can range in severity from person to person. The most common signs and symptoms are liver disease, anemia, problems with muscle rigidity/tremors, poor coordination, mood or psychiatric disturbances, and the appearance of rusty brown ring around the cornea of the eye, also called Kayser-Fleischer rings. Early detection and treatment can aid in preventing serious symptoms and organ damage. Treatment consists of chelation therapy, which help get rid of the excess copper through urinary excretion, and zinc supplementation, which helps prevent copper absorption from food in the digestive tract.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/wilson-disease/overview/7970 • DATE UPDATED: 2016-06-25

References

http://ghr.nlm.nih.gov/condition/wilson-disease

http://rarediseases.org/rare-diseases/wilson-disease/

http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx#sec3

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