Cystinuria is an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder. It is a type of aminoaciduria. 'Cystine', not 'cysteine,' is implicated in this disease; the former is a dimer of the latter.
Cystinuria is a cause of persistent kidney stones. It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in ...
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* Tota la informació es basa en investigacions científiques publicades