Searchable abstracts of presentations at key conferences in endocrinology

ea0014oc12.2 | Diabetes | ECE2007

Uncoupling protein 2 mutations – a new explanation for congenital hyperinsulinism?

Thybo Christesen Henrik , Hussain Khalid , Svargo Lone , Brock Jacobsen Bendt , Brusgaard Klaus

Background: Congenital Hyperinsulinism (CHI) is genetically unexplained today in up to 50% of the patients with persistent or recurrent disease. The uncoupling protein 2 (UCP2) gene is a candidate gene for medical-responsive CHI, since knock out studies have shown that UCP2 deficiency leads to increased glucose-stimulated insulin secretion.Patients and methods: In a large series of 142 patients with transient, persistent or recurrent CHI, we examined for...