Mária Belovičová, Štefan Hrušovský, Michaela Bátorová, Ľubica Pružincová
Wilson‘s disease is a rare autosomal recessive genetic disease resulting from copper toxicity, primarily in brain and liver. The disease is caused by mutations in the ATP7B gene, which functions in a biliary copper excretory pathway. Failure of biliary excretion of excess copper leads to a slow accumulation of copper to the point of toxicity. In the article authors describe clinical patterns, diagnostic possibilities, therapy and prognosis of the disease.