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Dec 2, 2023 · Wilson's disease is a rare inherited condition that causes copper levels to build up in several organs, especially the liver, brain and eyes. Most people with Wilson's disease are diagnosed between the ages of 5 and 35.
Wilson's disease (also called Hepatolenticular degeneration) is a genetic disorder characterized by the excess build-up of copper in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build-up in the abdomen, swelling of the legs, yellowish skin, and itchiness.
Aug 7, 2023 · Wilson disease is an autosomal recessive condition caused by a mutation in the Wilson disease protein (ATP7B) gene. For a person to be affected, a copy of the gene from each parent need to be inherited.
4 days ago · Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene located on chromosome 13. 3. These mutations impair the function of ATPase, a protein responsible for transporting copper across intracellular membranes and facilitating its excretion into bile. The accumulation of excess copper levels increases ...
Oct 30, 2021 · Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatocellular copper deposition. The diagnostic approach to patients with WD may be challenging and is based on a complex set of clinical findings that derive from patient history, physical examination, as well as laboratory and imaging testing.
Wilson disease is a rare genetic disorder that affects the body's ability to remove excess copper. It can cause liver, nervous system, eye, and other problems. Learn about the symptoms, causes, diagnosis, and treatment of Wilson disease from NIDDK.
Oct 26, 2022 · Wilson disease is a rare genetic condition where copper builds up in your body. The condition affects your liver, brain, eyes and other organs. Too much copper in your body can cause life-threatening organ damage without treatment. Find a Primary Care Provider. Schedule an Appointment.
