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Otonkoski T.,University of Helsinki | Meissner T.,University Childrens Hospital Dsseldorf
Frontiers in Diabetes | Year: 2012

Exercise-induced hyperinsulinism (EIHI) is a rare disorder, which has so far only been described in two families as a dominantly inherited trait and in one isolated individual. It is characterized by hypoglycemia which is triggered most prominently by anaerobic exercise. Blood glucose levels fall as blood pyruvate and lactate levels increase and, typically, hypoglycemia develops immediately following exhaustive exercise. The insulin secretion of these individuals is responsive to intravenous pyruvate unlike in healthy controls. In all patients, mutations have been found in the regulatory regions of the SLC16A1 gene, which encodes the monocarboxylate transporter 1 (MCT-1) protein. MCT-1 transports lactate and pyruvate into the cell and is expressed in practically all cell types, except the pancreatic beta-cell where it is transcriptionally silenced. The pathogenesis of EIHI is based on the failure of MCT-1 silencing, leading to inappropriate insulin secretion triggered by anaerobic exercise. Although the patients are responsive to diazoxide in terms of a general increase of blood glucose, diazoxide does not completely prevent exercise-induced hypoglycemia. Most patients do not need specific treatment because they do not have significant symptoms if they avoid strenuous exercise. © 2012 S. Karger AG, Basel. Source

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