Wilson disease: pathophysiology, diagnosis, treatment, and screening

Wilson disease is an autosomal recessive condition of copper metabolism that was once considered fatal. The identification of the gene for Wilson disease has led to a better understanding of the molecular defect underlying this disorder and has impacted on disease diagnosis for some individuals. Medical therapy with chelating agents or zinc salts remains the mainstay of therapy for most patients, and liver transplant is lifesaving for those with advanced disease refractory to medical therapy or with fulminant hepatic failure. Future cell-based and genetic therapies may provide a cure for this disorder.