ABSTRACT

Cystine (Figure 70.1) owes its name to the fact that it was first recovered from stones obtained from the urinary bladder [1,2]. The stones of the earliest known cystinuric patients were described by Wollaston in 1810 [1]. He called the material cystic oxide to reflect the origin in the bladder, but Berzelius recognized that the compound in the stones was an amine not an oxide and named it cystine [2]. Its chemical nature was delineated in 1902 by Friedman [3]. Garrod in 1908 discussed cystinuria in the famous Croonian lectures, as being among the original inborn errors of metabolism [4]. Today we continue to consider that aberrations in transepithelial transport are among the disorders of metabolism.