An inherited disease in which copper accumulates in several organs of the body, particularly the brain, eyes, kidney, and liver. Most people are able to excrete excess copper, which is present in most foods. People with Wilson disease cannot excrete copper, and copper begins to accumulate immediately after birth, producing symptoms that usually show up in late adolescence. Essentially it is a disease of copper poisoning. Symptoms include jaundice, abdominal swelling, vomiting of blood, and abdominal pain. Some people have neurological symptoms, such as difficulty walking, talking, and swallowing. Symptoms of depression are sometimes present. Women with Wilson disease may have irregular menstrual periods, multiple miscarriages, or infertility.
An inborn defect of copper metabolism in which there is a deficiency of ceruloplasmin (which normally forms a nontoxic complex with copper). The free copper may be deposited in the liver, causing jaundice and cirrhosis, or in the brain, causing mental retardation 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 development may be normal.