Physical Exercise-Induced Hyperinsulinemic Hypoglycemia Is an Autosomal-Dominant Trait Characterized by Abnormal Pyruvate-Induced Insulin Release

• DOI: 10.2337/diabetes.52.1.199
• Publication Date: 2007-03-06T19:04:22Z
• Authors: Timo Otonkoski; Nina Kaminen; Jarkko Ustinov; Risto Lapatto; Thomas Meissner; Ertan Mayatepek; Juha Kere; Ilkka Sipilä
• Keywords: Hyperinsulinemia; Monocarboxylate transporter

We have identified patients in whom strenuous physical exercise leads to hypoglycemia caused by inappropriate insulin release (exercise-induced hyperinsulinism [EIHI]). The aim of the present study was test hypothesis that increased levels lactate and/or pyruvate during anaerobic would trigger aberrant secretion these patients. A total 12 (8 women and 4 men from two families) were diagnosed with EIHI, based on a more than threefold increase plasma induced 10-min bicycle test. mode inheritance autosomal dominant families. acute response bolus intravenous (13.9 mmol/1.73 m2) studied eight healthy control subjects. Insulin did not respond However, all EIHI responded pyruvate, displaying brisk insulin. 1 + 3-min peak 5.6-fold 0.9-fold subjects (P < 0.001). To pathogenesis involve monocarboxylate transport or metabolism β-cell, we sequenced genes encoding known transporter proteins tested into patient fibroblasts. results revealed normal coding sequences transport. In conclusion, represents new autosomal-dominant hyperinsulinemia syndrome may be common has been realized. provides simple, safe, specific diagnostic for this condition.