- Last Update On : 2013-01-06
Ceruloplasmin is an alpha2 globulin that carries more than 95% of all copper in the body. Both ceruloplasmin production and copper binding take place in the liver. Copper absorbed from the gastrointestinal tract is bound to ceruloplasmin in the liver and transported to various tissues to be incorporated into cellular cytochrome oxidase and other copper containing enzymes. Copper bound to ceruloplasmin is nontoxic. The liver excretes excess copper into the bile.
Wilson disease is an autosomal recessive disorder that occurs in ~1 in 30,000 individuals in Europe and North America. It is caused by a mutation of a gene on chromosome 13, coding for a membrane bound copper transporting ATPase known as ATP7B. More than 100 mutations of this gene have been discovered, explaining the variable clinical presentation of Wilson disease. This mutation results in 2 defects in hepatic copper metabolism: a decrease in the incorporation of copper into ceruloplasmin and diminished biliary excre