Essay on Wilsons Disease

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http://www.wilsonsdisease.org/

Wilson's Disease is a genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson's Disease affects one in thirty thousand people world wide. The genetic defect causes excessive copper accumulation. Small amounts of copper are essential as vitamins. Copper is present in most foods, and most people get much more than they need. Healthy people excrete copper they don't need, but Wilson's Disease patients cannot.

Copper begins to accumulate immediately after birth. Excess copper attacks the liver and brain resulting in hepatitis, psychiatric, or neurologic symptoms. The symptoms usually appear in late adolescence. Patients may have jaundice,
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Two abnormal genes are required to have the disease. The responsible gene is located at a precisely known site on chromosome 13. The gene is call ATP7B.
Many cases of Wilson's Disease occur due to spontaneous mutations in the gene. A significant number of others are simply transmitted from generation to generation. Most patients have no family history of Wilson's Disease.
People with only one abnormal gene are called carriers. They do not become ill and should not be treated.
More than thirty different mutations have been identified thus far. Therefore, it has been difficult to devise a simple genetic screening test for the disease. However, in a particular family, if the precise mutation is identified, a genetic diagnosis is possible. This may help in finding symptom-free relatives so that they may be treated before they become ill or handicapped. Someday a genetic test may help in prenatal diagnosis.

How is Wilson's Disease Being Treated?

Wilson's Disease is a very treatable condition. With proper therapy, disease progress can be halted and often times symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Therapy must therefore be lifelong.
Patients may become progressively sicker from day to day so immediate treatment can be critical. Delay of even a few days may cause irreversible worsening.
The newest FDA-approved drug is zinc acetate (Galzin). Zinc acts by blocking the absorption of
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