Wilson’s disease is an autosomal recessive, inherited, rare, progressive disorder in the metabolism of copper, characterized by excessive copper deposits in the brain, liver, and other tissues. These deposits result from excessive absorption of copper by the small intestines coupled with inadequate excretion of copper by the liver.

The incidence of Wilson’s disease varies according to the country and the rate of consanguinity. For example, the incidence in Japan is 1:30,000, whereas the incidence in Australia is 1:100,000.

Internationally there are estimated to be 10 to 30 million cases of Wilson’s disease. The age of onset of liver manifestations peaks between 10 to 13 years, whereas neuropsychiatric illness onset ranges from 19 to 20 years. Females present fulminant cases more frequently than males by a 4:1 ratio.

Wilson’s disease is a result of an autosomal recessive inheritance of the Wilson’s disease gene on chromosome 13; more than 40 mutations have been delineated.