COPPER METABOLISM IN NORMAL ADULTS AND IN CLINICALLY NORMAL RELATIVES OF PATIENTS WITH WILSON'S DISEASE

Abstract

Wilson's disease (hepato-lenticular degenera- tion) is now known to be associated with an inborn error of metabolism. The following biochemical abnormalities have been repeatedly con- firmed in patients suffering from the disease (Scheinberg, 1956; Bickel, Neale, and Hall, 1957): Increased content of copper in the liver, brain, and other tissues, increased urinary excre- tion of copper, a decreased level of copper in the serum and an associated decreased level of the copper-containing plasma protein coeruloplasmin. Other biochemical findings include amino- aciduria without necessarily an abnormal level of amino-acids in the blood.