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

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Abstract
Studies on 6 patients with Wilson''s disease (hepatolenticular degeneration) yielded the following results:[long dash]The daily excretion of alpha amino N in the urine was consistently elevated, averaging 390 mg. compared to a normal avg. of 164 mg. and an avg. of 158 mg. in patients with severe cirrhosis of the liver. The alpha amino N excretion during ad libitum feeding could be accounted for by the fasting rate of excretion, which averaged 18.1 mg./hr. compared to a normal avg. of 6.3 mg./h. Rapid infusion of amino acids did not result in a significantly greater loss of amino acids in the patients compared to that of the normals. Although the plasma alpha amino N concn. of the patients averaged slightly above the normal, this did not explain their aminoaciduria. There was no demonstrable defect of intermediary . amino acid metabolism. The occurrence in patients with Wilson''s disease of an excessive amino acid excretion in the fasting state would indicate a lowered renal threshold for amino acids. However, a greater than normal amino acid loss following the ingestion of protein foods or injn. of protein hydrolysates was not observed. Renal glycosuria was demonstrated in 3 patients. Another patient presented evidence of deranged Ca and P metabolism and osteomalacia. The kidney is believed to be the site of the defect resulting in excessive amino acid loss, but the type of abnormality is not explained.