A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia

J Diabetes. 2021 Aug;13(8):688-692. doi: 10.1111/1753-0407.13183. Epub 2021 Apr 24.

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 at 1% with 1 g/Kg uncooked cornstarch at bed-time milk and eliminated (0%) adjusting the dose at 1.5 g/Kg, as shown by Flash technology.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Failure to Thrive / etiology
  • Failure to Thrive / genetics*
  • Female
  • Glycated Hemoglobin / analysis
  • Glycosuria / etiology
  • Glycosuria / genetics*
  • Heterozygote*
  • Humans
  • Hypoglycemia / etiology
  • Hypoglycemia / genetics*
  • Sodium-Glucose Transporter 2 / genetics*

Substances

  • Glycated Hemoglobin A
  • SLC5A2 protein, human
  • Sodium-Glucose Transporter 2
  • hemoglobin A1c protein, human