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Shaimol T.*, Anilasree B. P., Dyuthi C., Nithya P. K. and Zeena K.


Wilson disease is a rare inherited disorder that prevents the body from getting rid of extra copper. Our body needs a small amount of copper from food to stay healthy. Too much copper is poisonous. The condition is due to mutations in the Wilson disease protein (ATP7B) gene. Normally liver releases extra copper into bile. With Wilson disease, the copper builds up in liver and it releases the copper directly into bloodstream. This can cause damage to brain, kidneys and eyes. Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it. Treatment is with drugs to remove the extra copper from body. It needs to take medicine and follow a low-copper diet for the rest of life. WD is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits the gene from both parents, the child may develop Wilson's disease. Wilson's disease occurs in 1 to 4 per 100,000 people.

Keywords: Wilson's disease mutation,autosomal.

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