Searchable abstracts of presentations at key conferences in endocrinology

ea0034p273 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2014

Familial adult hyperinsulinism due to genetic glucokinase activation: implications for therapeutic use of glucokinase activators

Challis B G , Harris J , Sleigh A , Orme S M , Seevaratnam N , Dhatariya K , Simpson H L , Semple R K

Glucokinase (GCK) serves as the blood glucose ‘sensor’ in pancreatic β-cells, being critically involved in transducing elevated blood glucose into increased insulin secretion. Inactivating GCK mutations cause a subtype of maturity onset diabetes of the young (MODY), whereas activating mutations are a rare cause of hyperinsulinaemic hypoglycaemia, usually presenting in infancy.We now describe the case of a 60-year-old woman who first presen...