The most significant biochemical alterations in Wilson's disease are manifested in the metabolism of copper and aminoaciduria. The excessive copper eliminated in the urine, the notable reduction in serum ceruloplasmin, etc., have recently been studied by means of isotopes, and there is still no clear and certain concept as to pathogenesis. Much less verified is the hypothesis which ascribes the initial defect to a deficiency in ceruloplasmin, an inborn metabolic error which gives rise to a defect in the synthesis of this α-globulin—thus promoting a greater absorption of copper by the intestines and subsequent increased excretion of copper in the urine.
Cartwright has not found any correlation between the blood ceruloplasmin levels and the clinical course in Wilson's disease in 39 patients. On the other hand some authors, such as Uzman, suggest that the primary factor in Wilson's disease is the aminoaciduria. In favor of this hypothesis is the fact
GILSANZ V, BARRERA A, ANAYA A. The Renal Biopsy in Wilson's Disease. AMA Arch Intern Med. 1960;105(5):758–761. doi:10.1001/archinte.1960.00270170096012
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