OBSERVATIONS ON CERULOPLASMIN IN WILSON'S DISEASE*†

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Abstract
In 2 young brothers, in whom the diagnosis of Wilson''s disease was proved by the presence of Kayser-Fleischer rings, cupriuria, aminoaciduria and excess Cu in the tissues, the hitherto unreported observation of normal blood ceruloplasmin levels was made. In one of these individuals the normal levels were observed to persist for a period of 3 years. The blood ceruloplasmin levels were measured by both enzymatic and immunochemical methods. In one of the above patients the rate of incorporation of Cu64 into ceruloplasmin was measured following the administration of a single oral dose of Cu64 acetate. The incorporation rate was markedly delayed in spite of the presence of normal amounts of circulating ceruloplasmin. The authors conclude that the finding of normal blood levels of ceruloplasmin in the above patients is contrary to the widely held theory that the basic genetic abnormality in Wilson''s disease is a defect in the formation of ceruloplasmin. On the other hand the observation of a marked delay in the rate of incorporation of Cu into ceruloplasmin still suggests the presence of an abnormality in the metabolism or function of ceruloplasmin in this condition.