Wilson's Disease Case Study

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Wilson's disease (WD) is an inherited disorder affecting copper metabolism. The first known case was described by Dr Samuel Alexander Kinnier Wilson in 1912,(1) and after that, studies have revealed many of its associated biochemical disturbances(2) and genetic abnormalities. The physical aspect of the disease affects mostly the live and the brain A distinguishable feature of WD is that medical therapy can be used to treat patients without symptoms as well as patients already suffering from the symptoms. Hepatic transplantation is able to cure the metabolic abnormality. This research aims to define Wilson's disease as well as its history, preview its clinical presentation, symptoms and discuss the current diagnosis and management of the disease.
Wilson's Disease:
Wilson's disease is a rare autosomal recessive genetic disorder that is inherited in which copper accumulates in human tissues. This disease can be characterized by excessive accumulation and deposition of copper in the liver, brain, as well as other tissues. The main physiologic abnormality is excessive absorption of copper from the small intestine and
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The disorder is inherited in an autosomal recessive manner. Wilson's Disease is found in most populations in the world and especially in those in which consanguineous marriage is common. WD is frequently estimated to be around 1 in 5,000 or 1 in 30,000. The carriers' frequency, however, is around 1 in 90(6). There are various defects that have been identified in the ATP7B Genes associated with Wilson's disease patients, most of those defects are found in the transmembrane region of the associated protein. The defects include insertion, deletion, splice site and point mutations. Many of the mutations identified have been described in various

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