Tissue Copper Proteins in Wilson's Disease

Abstract

Abnormalities in copper metabolism are a consistent feature of Wilson's disease,¹ and it has been demonstrated that these abnormalities antedate both pathological lesions and the onset of clinical illness² and can be detected in infancy.³ The occurrence of elevated tissue copper early in life relative to the onset of symptoms^2,4 and the improvement which may follow treatment with copper mobilizing agents^5,6 suggest that accumulation of copper in the tissues is the primary factor in the production of the characteristic deficits in neurological, hepatic, and renal function. Among the manifestations of this abnormal copper metabolism in Wilson's disease are two which are similar to the condition of the normal newborn infant; first, a reduced amount of normal plasma ceruloplasmin,⁷ and, second, a greatly elevated concentration of copper in the liver.^8,9 One phase of the present investigation deals with the possible relationship between the type