Wilson’s Disease

Wilson’s disease is a autosomal recessive disorder of copper metabolism. Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Wilson’s disease is caused by mutations in the ATP7B gene. ATP7B encodes a hepatic copper-transporting protein, which is important for copper excretion into bile. Neurological symptoms in Wilson’s disease include variable combinations of dysathria, ataxia, parkinsonism, dystonia and tremor. Wilson’s disease is lethal if untreated. This review discusses the epidemiology, genetics, clinical features, etiopathophysiology, diagnostic tests, and treatment of Wilson’s disease.