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Article

Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat.

PloS one - 1 Jan 2016

Mizukami Keijiro, Raj Karthik, Osborne Carl, Giger Urs

Abstract excerpt

Cystinuria is a classical inborn error of metabolism characterized by a selective proximal renal tubular defect affecting cystine, ornithine, lysine, and arginine (COLA) reabsorption, which can lead to uroliths and urinary obstruction. In humans, dogs and mice, cystinuria is caused by variants in one of two genes, SLC3A1 and SLC7A9, which encode the rBAT and bo,+AT subunits of the bo,+ basic amino acid...

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PMID: 27404572
DOI: 10.1371/journal.pone.0159247
PMCID: PMC4942060

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