Cystinuria
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- Cystinuria is caused by a mutation in the protein responsbile for proximal tubule resorption of the amino acid cysteine. Because cysteine remains present in the tubule as increasing volumes of fluid are resorbed, its concentration increases and can thus precipitate, generating Renal and Urinary Tract Stones that may cause Urinary Tract Obstruction. Cystinuria is inherited in an autosomal recessive pattern.