DESCRIPTION/BACKGROUND INFORMATION:
Most of the copper in the body is located in the liver, bones, and muscle, but traces of copper occur in all tissues of the body. The liver excretes excess copper into the bile for elimination from the body. Copper is a component of many enzymes. Some of these enzymes are necessary for energy production or for the formation of the hormone epinephrine, red blood cells, bone, or connective tissue. Ninety percent or more of the total serum copper is found in ceruloplasmin. Wilson's disease (hepatoenticular degeneration) results from disordered copper metabolism, in which hepatic excretion of copper into the bile is impaired leading to toxic deposition of copper in tissues. Normal metabolism of copper includes incorporation by the liver into ceruloplasmin (about six to seven copper atoms per molecule), which is then secreted into the plasma. In Wilson's disease, this process is impaired and copper that has been absorbed by the body and transported to the liver fails to re-enter the circulation as part of Cp. Normal excretion of copper through the bile is diminished with an overall increase in body copper deposits that are toxic to liver, brain, cornea, kidneys, bones, and parathyroids. Diagnosis of Wilson's disease is based on physical findings (liver disease, neurologic signs, Kayser-Fleischer ring in the cornea), measurement of low serum ceruloplasmin level, and increased copper concentrations in urine and on liver biopsy.