Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I/II

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Abstract

10 families with cystinuria were investigated by measuring: (a) quantitative 24 hr urinary excretion of amino acids by column chromatography; (b) endogenous renal clearances of amino acids and creatinine; (c) intestinal uptake of 34C-labeled L-cystine, L-lysine, and L-arginine using jejunal mucosal biopsies; (d) oral cystine loading tests. All four of these were studied in the probands and the first two in a large number of the family members.

Authors

Claude L. Morin, Margaret W. Thompson, Sanford H. Jackson, Andrew Sass-Kortsak