Wilson disease is a rare hereditary disorder of copper metabolism. The genetic defect is caused by various mutations in the copper-transporting enzyme ATP7B, located mainly in the liver and brain. Clinical symptoms are highly variable, with any combination of hepatic and/or neurological or psychiatric manifestations. The age of onset varies from early childhood to young adults and can even be manifested in later ages. The clinical diagnosis is based on a combination of clinical, biochemical and molecular markers. Treatment using chelating agents and zinc salts is effective when started early or even better at presymptomatic stages of the disease.
Keywords: Central nervous system; Chelating agents; Copper toxicity; Liver; Wilson disease protein.