#cystinuria
Cystinuria
Amino acid metabolic disorder involving cystine stones forming in the kidneys, ureter, and bladder
Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter.
Tue 4th
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