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A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.

Iranian journal of kidney diseases - 1 Jan 2016

Markazi Samaneh, Kheirollahi Majid, Doosti Abbas, Mohammadi Mehrdad, Koulivand Leila

Abstract excerpt

Cystinuria is an inherited disease characterized by the formation of cystine calculi in the kidneys, ureters, and bladder. Cystinuria is associated with mutation in the SLC3A1 and SLC7A9 genes. These defects prevent appropriate reabsorption of dibasic amino acids lysine, ornithine, and arginine. Cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of...

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PMID: 26837681

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