Abnormalities of Copper Metabolism in Wilson's Disease and Their Relationship to the Aminoaciduria

Abstract

Copper and amino acid levels in serum and urine were determined in 17 patients with Wilson''s disease and compared with a control group of patients with cirrhosis of the liver as well as with normal individuals. Reduced Cu levels in the serum and elevated urinary concentrations of Cu were characteristic findings of the group with Wilson''s disease. The presence of both abnormalities proved more characteristic of the disease than either one alone. Markedly reduced levels of the serum Cu protein, ceruloplasmin, were found in all cases of Wilson''s disease, and represented the most specific biochemical abnormality found. The specificity of the enzymatic method for the determination of ceruloplasmin was demonstrated by procedures of zone electrophoresis. A parallelism was demonstrated between the urinary Cu and amino acid excretion in Wilson''s disease. Increasing the amino acid excretion by increasing the protein intake, or by the administration of cortisone resulted in a parallel increase in the urinary excretion of Cu.