What causes the genetic disorder known as Wilsons disease?”
Wilson’s disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required. The condition is due to mutations in the Wilson disease protein (ATP7B) gene. 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, they may develop Wilson’s disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older patients have been described. Wilson’s disease occurs in 1 to 4 per 100,000 people. Wilson’s disease is named after Dr. Samuel Alexander Kinnier Wilson (1878-1937), the British neurologist who first described the condition in 1912. More information is available at the link b
Wilson’s disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.[1] The condition is due to mutations in the Wilson disease protein (ATP7B) gene. 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, they may develop Wilson’s disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older patients have been described. Wilson’s disease occurs in 1 to 4 per 100,000 people.[1] Wilson’s disease is named after Dr.
A mother has made an emotional plea for support for her son who suffers from a rare genetic disease which has robbed him of a normal life – and which might yet do the same to her other three children. About 18 months ago Scott Wilson, 27, from Gawdy Road, Heartsease, was struck down with a mystery illness which resulted in body tremors and has left him with physical and neurological symptoms similar to that of Parkinson’s disease. The illness was diagnosed last year as Wilson’s disease, or hepatolenticular degeneration, a genetic disorder in which copper accumulates in tissues, and results in neurological or psychiatric symptoms and liver disease. His mother Dawn, 49, said the condition, which occurs in about one in 30,000 people, has had an enormous impact on both her son and the rest of the family and wants to find people in a similar situation who might be able to provide help, support, and friendship.
