JOURNAL ARTICLE
Hypoglycaemia following physical exercise in a patient with novel SLC16A1 variant.
Published In: European Journal of Endocrinology, 2025, v. 192, n. 1. P. K1 1 of 3
Database: Academic Search Ultimate 2 of 3
Authored By: Frampton, Ruth; Lewis, David; Rahman, Yusof; Tchan, Michel; Greenfield, Jerry R 3 of 3
Abstract
This article focuses on a case of exercise-induced hyperinsulinaemic hypoglycaemia linked to a rare variant in the SLC16A1 gene, which encodes monocarboxylate transporter 1 (MCT-1). The 41-year-old patient experienced severe hypoglycaemia and a seizure following strenuous exercise, with genetic testing revealing a deletion in the promoter region of SLC16A1, potentially causing abnormal MCT-1 expression in pancreatic beta cells and inappropriate insulin release during anaerobic exercise. The study demonstrated that subcutaneous octreotide, a somatostatin receptor analogue, reduced hyperinsulinaemia and hypoglycaemia in a dose-dependent manner, suggesting its therapeutic potential. The case highlights the possibility that exercise-induced hyperinsulinism due to SLC16A1 variants may be under-recognized and can present later in adulthood with hypoglycaemic unawareness.
Additional Information
- Source:European Journal of Endocrinology. 2025/01, Vol. 192, Issue 1, pK1
- Document Type:Article
- Subject Area:Chemistry
- Publication Date:2025
- ISSN:0804-4643
- DOI:10.1093/ejendo/lvae159
- Accession Number:182770267
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