Wilson disease


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Wil·son disease

 (wĭl′sən) or Wil·son's disease (-sənz)
n.
A rare genetic disease caused by a defect in copper metabolism, resulting in the accumulation of copper in the liver, brain, kidneys, and cornea and causing neurological symptoms and liver disease.

[After Samuel Alexander Kinnier Wilson (1877-1937), British neurologist.]
References in periodicals archive ?
Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests.
Copper transport and its defect in Wilson disease: Characterization of the copper-binding domain of Wilson disease ATPase.
Psychological presentations without hepatic involvement in Wilson disease. Pediatr Neurol.
Wilson Therapeutics' lead product, WTX101, is in development as a novel treatment for Wilson Disease.
(4.) Roberts EA, Schilsky MLA practice guideline on Wilson disease. Hepatology 2003; 37: 1475-92.
Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin: implication for mass screening of Wilson disease. J Inherit Metab Dis 1994;17:616-20.
WTX101 (bis-choline tetrathiomolybdate) is an investigational first-in -class copper-protein-binding agent under investigation as a novel therapy for Wilson Disease.
WTX101-201 was a 24-week open-label Phase 2 study evaluating the efficacy and safety of WTX101 monotherapy in 28 newly-diagnosed patients with Wilson Disease, aged 18 years and older, who had received either no prior treatment for Wilson Disease or a standard of care agent for up to two years.
(8) describe an "Effective molecular diagnosis of Wilson disease using prevalent mutations and informative SNP [single-nucleotide polymorphism] markers" in a multiethnic WD cohort from India.
FOCuS is a randomised, controlled, rater-blinded, multi-centre study that will enrol approximately 100 Wilson Disease patients, aged 18 years or over, to receive once-daily WTX101 or standard of care.
Its lead product, WTX101, is in development as a novel treatment for Wilson Disease. A Phase 2 clinical study has been successfully completed and preparations for a pivotal Phase 3 study are reportedly ongoing.