A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.

Abstract excerpt

BACKGROUND: Familial renal glucosuria (FRG) is an isolated disorder of proximal tubular glucose transport, characterized by abnormal urinary glucose excretion in the presence of normal blood glucose levels. Generalized aminoaciduria has not generally been considered a feature of this disorder. FRG has recently been shown to result from mutations in SLC5A2, encoding the kidney-specific low-affinity/high-capacity...

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