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
Familial renal glycosuria identified in an Indian family
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DOI: 10.1136/bcr-2023-258408
Abstract: Glycosuria can be isolated or it can be associated with other tubulopathies like proximal renal tubular acidosis, Fanconi syndrome and endocrine conditions like diabetes mellitus. The SLC5A2 gene codes for the SGLT2 transporter, which is… read more here.
Keywords: family; renal glycosuria; slc5a2 gene; glycosuria identified ... 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
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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