Wilson's disease is characterized by

Wilson's disease (hepatolenticular degeneration) is a rare but impoant autosomal recessive disorder of copper metabolism caused by a variety of mutations in the ATP7B gene on chromosome 13. Total body copper is increased, with excess copper deposited in, and causing damage to, several organs. Normally, dietary copper is absorbed from the stomach and proximal small intestine and is rapidly taken into the liver, where it is stored and incorporated into caeruloplasmin, which is secreted into the blood. The accumulation of excessive copper in the body is ultimately prevented by its excretion, the most impoant route being bile. In Wilson's disease, there is almost always a failure of synthesis of caeruloplasmin; however, some 5% of patients have a normal circulating caeruloplasmin concentration and this is not the primary pathogenic defect. The amount of copper in the body at bih is normal but thereafter it increases steadily; the organs most affected are the liver, basal ganglia of the brain, eyes, kidneys and skeleton . Ref - Davidsons medicine 23e p896