Wilson disease

Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism characterised by pathological copper accumulation. WD is caused by mutations in the ATP7B gene, which encodes a transmembrane copper-transporting ATPase, leading to copper overload in the liver, brain and other organs. The clinical course of WD can vary in severity but progressive liver disease is a common feature. Patients can also present with neurological disorders and psychiatric symptoms. WD is diagnosed based on diagnostic algorithms incorporating clinical symptoms and signs, measures of copper metabolism and DNA analysis. Available treatments include chelators and zinc salts, which reverse copper overload by different mechanisms. Additionally, liver transplantation is indicated in selected cases. New agents, such as tetrathiomolybdate salts, are currently being investigated in clinical trials and genetic therapies are being tested in animal models. With early treatment, the prognosis of disease is good; however, an important issue is diagnosing patients before the onset of serious symptoms. Advances in screening for WD may therefore bring earlier diagnosis and improvements for patients with this disorder.