Cystinuria

Publisher Website
Google Scholar
Abstract
Cystinuria is an old medical topic.1 While Napoleon and Wellington were preoccupied with the Peninsular War, Wollaston characterized the "cystic oxide" he found in some, but not all, samples of human urinary calculi.2 A century later, A.E. Garrod used cystinuria with great effect to illustrate his idea of human chemical individuality.3 Half a century after that, Dent and Rose4 and Harris et al.5 solved the riddle of cystinuria by showing that it represents an inborn error of membrane transport, not a defect of catabolism. This hyperaminoaciduria is inherited as an autosomal recessive phenotype. The mutant gene is common in humans, . . .

This publication has 7 references indexed in Scilit: