INVESTIGATION OF THE AMINOACIDURIA IN WILSON'S DISEASE (HEPATOLENTICULAR DEGENERATION): DEMONSTRATION OF A DEFECT IN RENAL FUNCTION 1

Abstract

Disease Associated With Cirrhosis of the Liver" (1), established in 1912 as a nosologic entity the condition now referred to as Wilson's disease, or hepatolenticular degeneration. Although many subsequent advances have been made in knowledge of the clinical forms and morphologic features of this disease, there has been a paucity of informa- tion concerning metabolic abnormalities which are presumed to be present in some form in a disease with such widespread manifestations. Recently, Uzman, and Denny-Brown (2) described a pa- tient with hepatolenticular degeneration who had increased quantities of amino acids in the urine as shown by one-dimensional paper partition chro- matograms and chemical determination of the total amino nitrogen, alanine, and glutamic and aspartic acids in 24-hour urine specimens. The patient had no demonstrated renal disease, and only minimal evidence of liver disease. The authors suggested that the aminoaciduria might represent either a failure of deamination of amino acids by an im- paired liver, or an underlying defect in the metab- olism of amino acids resulting in increased excretion by a normal kidney. The experiments to be described were under- taken to elucidate the mechanism of the excessive loss of amino acids in Wilson's disease with respect to the site and type of disorder.