Cystinuria

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, . . .