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Wilson Disease

Summarized by Plex Health
Last Updated: 02 May 2022
the menkes and wilson disease genes counteract in copper toxicosis in labrador retrievers: a new canine model for copper-metabolism disorders. "the menkes and wilson disease genes counteract in copper toxicosis in labrador retrievers: a new canine model for copper-metabolism disorders.", by Fieten H, Gill Y, Martin AJ, Concilli M, Dirksen K, van Steenbeek FG, Spee B, van den Ingh TS, Martens EC, Festa P, Chesi G, van de Sluis B, Houwen RH, Watson AL, Aulchenko YS, Hodgkinson VL, Zhu S, Petris MJ, Polishchuk RS, Leegwater PA, Rothuizen J. DMM020263F1: Hepatic ultrastructure in Labrador retrievers with elevated copper levels. (A,B) Low (A) and high (B) magnification of thin sections from the liver reveal regular organization of the hepatic tissue in a 1-year-old male cross-breed...

Wilson disease is an acquired disorder in which too much amounts of copper build up in the body, specifically in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, yet they usually begin throughout the adolescent years. Liver disease is commonly the preliminary feature of Wilson disease in affected children and young adults; individuals detected at an older age usually do not have symptoms of liver issues, although they may have very mild liver disease. Symptoms and signs of Wilson disease consist of chronic liver disease, central nervous system problems, and psychiatric disruptions. Wilson disease is triggered by changes in the ATP7B gene. This accumulation can harm organs and cells and cause the many signs and symptoms of Wilson disease since high degrees of copper are toxic. When two service providers of an autosomal recessive problem have children, each child has a 25% risk to have the problem, a 50% risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a service provider. Around one in 30,000 people have Wilson disease. Wilson disease is additionally called hepatolenticular degeneration. The elimination of excess copper depends on a particular enzyme, yet this enzyme is defective in people with Wilson disease. Wilson disease is inherited in an autosomal recessive way. If both parents carry a damaged genetics for Wilson disease, each child has a one in four chance of inheriting both damaged genes and being affected by Wilson disease. Many people with Wilson disease have no family history of the disorder.

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