ea0023oc5.4 | Oral Communications 5 | BSPED2009
Kapoor Ritika R
, Flanagan Sarah E
, McKiernan John
, Shield Julian P
, Tinker Andrew
, Ellard Sian
, Hussain Khalid
Background: The pancreatic β-cell KATP channel plays a key role in glucose stimulated insulin secretion and is encoded by the genes ABCC8 and KCNJ11. Recessive mutations in ABCC8/KCNJ11 cause severe medically unresponsive HH. Recently, dominant mutations in these genes have been described that cause mild, medically responsive HH. Controversy exists on whether these dominant ABCC8/KCNJ11 mutations predispose to diabetes mellitus in ad...