What is Wilson disease
Wilson disease is a rare, genetic, metabolic disease in which toxic free copper builds up in the body, primarily affecting the brain and liver and leading to potentially life-threatening hepatic, neurologic, and psychiatric manifestations.1-3
It is caused by inherited autosomal recessive genetic variants in the ATP7B gene, which encodes a copper transporter responsible for removing excess copper from the liver into the bile duct.2,4
This website is a resource for healthcare professionals, providing educational materials and expert opinions for those interested in learning more about Wilson disease.
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Can you recognize the broad range of Wilson disease manifestations in adults and pediatric patients? Are you confident in differentiating Wilson disease from other, more common hepatic, neurologic, psychiatric, and ophthalmologic disorders?
Listen to experts in the field sharing their knowledge and opinions on key topics in Wilson disease in a series of interactive e-learning modules.
Listen to Piotr Socha from The Children’s Memorial Health Institute in Warsaw, Poland, sharing his extensive knowledge of and experience in diagnosis of Wilson disease and discussing some of the limitations of existing diagnostic techniques, then test your knowledge of diagnostic best practice in the latest interactive e-learning module in the series.
- 1. Gow PJ, Smallwood RA, Angus PW et al. Diagnosis of Wilson's disease: an experience over three decades. Gut 2000; 46: 415-419.
- 2. Patil M, Sheth KA, Krishnamurthy AC et al. A review and current perspective on Wilson disease. J Clin Exp Hepatol 2013; 3: 321-336.
- 3. Gao J, Brackley S, Mann JP. The global prevalence of Wilson disease from next-generation sequencing data. Genet Med 2019; 21: 1155-1163.
- 4. Forbes JR, Cox DW. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 2000; 9: 1927-1935.