Studies on Copper Metabolism. XIII. Hepatolenticular Degeneration1

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Abstract
Various aspects of Cu metabolism were studied in 7 patients with hepatolenticular degeneration. The abnormalities demonstrated were a decrease in the plasma total Cu level, an increase in the direct-reacting fraction of plasma Cu, a decrease in the indirect-reacting fraction (ceruloplasmin) of plasma Cu, an increase in the concentration of Cu in the spinal fluid, all of which was direct-reacting, a large increase in the concentration of Cu in all tissues studied except heart and skeletal muscle, lung and erythrocytes, a state of positive Cu balance and an increased excretion of Cu in the urine. A patient is described with early Wilson''s disease in whom the indirect-reacting fraction of plasma Cu was markedly depressed in the absence of an increased excretion of amino acids in the urine. A tentative hypothesis is proposed to explain the observations and their relation to the etiology of this disease.