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

Dimitrios T Papadimitriou, Emmanouil Manolakos, Eleni Dermitzaki, Fotini Filiousi, Ioannis Papoulidis, Georges Zoupanos, Aldesia Provenzano, George Mastorakos

Journal: Journal of diabetes 2021;13(8):688-692

PMID: 33893756

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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.

Address: Department of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Athens, Greece.; Endocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, University of Athens, Athens, Greece.; Access to Genome-ATG, Athens-Thessaloniki, Greece.; Pediatrician, Chania, Greece.; Department of Pediatric Urology, Athens Medical Center, Athens, Greece.; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.

DOI: 10.1111/1753-0407.13183

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MeSH Terms: Child, Preschool, Failure to Thrive, Female, Glycated Hemoglobin, Glycosuria, Heterozygote, Humans, Hypoglycemia, Sodium-Glucose Transporter 2