A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Diabetes"
DOI: 10.1111/1753-0407.13183
Abstract: Highlights A novel heterozygous mutation in the SLC5A2 gene in a 2-year-old girl with severe asymptomatic glycosuria, mild failure to thrive, and subclinical hypoglycemia: Continuous glucose monitoring identified 14% hypoglycemic excursions (< 70 mg/dl), reduced… read more here.
Keywords: novel heterozygous; glycosuria mild; slc5a2 gene; mild failure ... See more keywords
A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2019.10110
Abstract: Familial renal glucosuria (FRG) is a rare condition that involves isolated glucosuria despite normal blood glucose levels. Mutations in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium-glucose cotransporter 2 (SGLT2), have… read more here.
Keywords: slc5a2 gene; novel compound; gene; heterozygous mutation ... See more keywords