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...

ea0031p225 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2013

Non-alcoholic fatty liver disease in patients attending the National Severe Insulin Resistance Service

Leiter Sarah M , Sleigh Alison , Adams Claire , Harris Julie , Lomas David J , Allison Michael , Semple Robert , Savage David , Stears Anna

Introduction: The prevalence of non-alcoholic fatty liver disease (NAFLD) is greatly increased in patients with lipodystrophy and some other forms of severe insulin resistance. Liver biopsy remains the definitive technique for diagnosis and staging of NAFLD. However, non-invasive techniques, such as magnetic resonance spectroscopy (MRS) and magnetic resonance imaging (MRI) are increasingly used to assess response to therapeutic interventions. The National Severe Insulin Resist...