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  • A form of diazoxide-sensitive diffuse hyperinsulinism characterised by episodes of hypoglycaemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycaemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycaemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant.
  • A form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant.
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