Copper metabolism in normal adults and in clinically normal relatives of patients with Wilson's disease.

Wilson's disease (hepato-lenticular degeneration) is now known to be associated with an inborn error of metabolism. The following biochemical abnormalities have been repeatedly confirmed 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 excretion 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 aminoaciduria without necessarily an abnormal level of amino-acids in the blood. This familial disease is inherited in a recessive, autosomal way (Bearn, 1953). Biochemical abnormalities have occasionally been reported in clinically normal relatives of patients with Wilson's disease, namely an excess amino-aciduria (Uzman and Hood, 1952) and a low coeruloplasmin level (Scheinberg, Dubin, and Harris, 1955). We are not, however, acquainted with any study of the copper metabolism in asymptomatic relatives, and this investigation was therefore undertaken as a further step in the study of this rare but fatal disease. As a parallel study in order to establish on a comparable basis the normal range of serum copper levels, one of us has examined the blood of 106 normal adults.