Copper and Disease

Abstract

Wilson’s disease (hepatolenticular degeneration) was first characterized by S. A. Kinnear Wilson in 1912 (Wilson, 1912). It is an inherited, progressive, and, if untreated, ultimately fatal disease of copper accumulation in the human body, particularly in the liver, brain, and kidney (see Table 9-1). Indeed, the demonstration of excess copper in the liver is a requisite for the diagnosis of Wilson’s disease. The disease is usually seen as hepatic dysfunction in early adolescence, although it has been found in patients as young as four years. Symptoms are nonspecific, commonly with degenerative changes in the brain and cirrhosis of the liver. The incidence of the disease is high among Arabs, Japanese, Chinese, Indians, and Jews (Beam, 1960). The gene for Wilson’s disease appears to be located on chromosome 13 (Frydman et al., 1985).