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Wilson Disease
Definition
Wilson disease is an autosomal recessive disorder of copper transport. Affected individuals accumulate toxic levels of copper in the liver and later in the brain as a consequence of mutations in both alleles of the Wilson disease gene ( ATP7B ). The gene encodes a copper-transporting ATPase expressed primarily in hepatocytes in the liver, where its major function is excretion of hepatic copper into the biliary tract.
Epidemiology
The incidence of Wilson disease, defined as the occurrence of new cases, is approximately 1 in 30,000 to 40,000 live births. For special populations in which consanguinity is common, the incidence is higher. In the general population, the prevalence of heterozygous gene carriers (defined as the ratio of all individuals with one mutant ATP7B allele to the population at large) is estimated to be 1 in 90 to 1 in 180, although this incidence may be an underestimate.
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