Wilson’s disease

Wilson’s disease is a rare progressive genetic disorder of copper metabolism associated with hepatolenticular degeneration. Left untreated, it results in severe disability and death. The diagnosis is very easily overlooked but, if discovered early, effective treatments are available to prevent or reverse many manifestations of this disorder. The role of copper in disease pathogenesis, coupled with clinical, biochemical and genetic markers, is pivotal to establishing a clear diagnosis. Medical therapy involves chelating agents (e.g.