Cystinuria type I-A – SLC3A1

Cystinuria is a hereditary renal transport disorder. The disease causes an error of the metabolism, which leads to the formation of cystine crystals and uroliths in the urinary tract. The formation can result in stranguria, hematuria, urinary obstruction and renal failure. The disorder is caused due to a mutation in the solute carrier family 3 (amino acid transporter heavy chain) member 1 (SLC3A1) gene.