n. a copper-containing protein present in blood plasma. Congenital deficiency of caeruloplasmin leads to abnormalities of the brain and liver (see Wilson’s disease).
an inborn defect of copper metabolism in which there is a deficiency of *caeruloplasmin (which normally forms a nontoxic complex with copper). It is inherited as an autosomal *recessive characteristic. The free copper may be deposited in the liver, causing jaundice and cirrhosis, or in the brain, causing learning disabilities and symptoms resembling *parkinsonism. There is a characteristic brown ring in the cornea (the Kayser–Fleischer ring). If the excess copper is removed from the body by regular treatment with *penicillamine both mental and physical deficits tend to improve. Medical name: hepatolenticular degeneration. [S. A. K. Wilson (1878–1936), British neurologist]... wilson’s disease