Cystinuria is a complex autosomal recessive inherited disorder found in approximately one out of 7000 births. The disease affects the renal tubular reabsorption of certain filtered amino acids, i.e., cystine, lysine, arginine and ornithine. Owing to the defective intestinal transport of these amino acids, three types of cystinuria may occur. The disease occurs equally in both sexes, but males are severely affected and have a higher mortality rate. […]
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Berio et al. (2024) studied this question.
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