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Wilson Disease Overview Research Center, Yale University
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Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.

Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.

But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.

Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling.

Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings.

In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.

Yale is a designated Center of Excellence that seeks to render the highest quality care to acutely presenting and chronically ill Wilson disease patients. Care is provided by a core multidisciplinary team of physicians that includes hepatologists (adult and pediatric), neurologists (movement disorder specialists), dieticians, psychiatrists, transplant surgeons and other specialists at our Center that provide care and advice for Wilson disease patients. The center's committed health care professionals have expertise in the diagnosis and treatment of Wilson disease.

Yale is one of only a few sites worldwide participating in a new clinical trial for the treatment of Wilson disease with a new form of the chelating agent tetrathiomolybdate. Yale has enrolled and treated the first two patients in this protocol.

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