Frampton Ruth, Lewis David, Rahman Yusof, Tchan Michel, Greenfield Jerry R
Diabetes, Appetite and Metabolism Laboratory, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
St Vincent's Clinical Campus, Faculty of Medicine and Health, UNSW Sydney, NSW 2010, Australia.
Eur J Endocrinol. 2025 Jan 6;192(1):K1-K5. doi: 10.1093/ejendo/lvae159.
Rare defects in the promoter region of SLC16A1, the gene encoding monocarboxylate transporter 1 (MCT-1), result in exercise-induced hyperinsulinism. In this disorder, inappropriate insulin secretion is triggered by anaerobic exercise with consequent hypoglycaemia. We describe the case of a 41-year-old man presenting with a generalised tonic-clonic seizure and severe hypoglycaemia following strenuous exercise. A subsequent prolonged fast with incorporation of exercise into the protocol demonstrated hyperinsulinaemic hypoglycaemia; genetic testing revealed a variant of unknown significance in the SLC16A1 gene. Administration of subcutaneous octreotide resulted in dose-dependent reduction in hyperinsulinaemia and hypoglycaemia.
编码单羧酸转运蛋白1（MCT-1）的基因SLC16A1的启动子区域存在罕见缺陷，会导致运动诱发的高胰岛素血症。在这种疾病中，无氧运动会引发不适当的胰岛素分泌，进而导致低血糖。我们描述了一名41岁男性的病例，该患者在剧烈运动后出现全身强直阵挛性发作和严重低血糖。随后进行的长时间禁食并将运动纳入方案中，结果显示为高胰岛素血症性低血糖；基因检测发现SLC16A1基因存在一个意义不明的变异。皮下注射奥曲肽可使高胰岛素血症和低血糖呈剂量依赖性降低。
