Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.
Glucokinase is a key enzyme involved in regulating insulin secretion from the pancreatic ß-cell. The unique role of glucokinase in human glucose physiology is illustrated by the fact that genetic mutations in glucokinase can either cause hyperglycaemia or hypoglycaemia. Heterozygous inactivating mutations in glucokinase cause maturity-onset diabetes of the young (MODY), homozygous inactivating in glucokinase mutations result in permanent neonatal diabetes whereas heterozygous activating glucokinase mutations cause hyperinsulinaemic hypoglycaemia.
Hussain
Khalid
K
Clinical and Molecular Genetics Unit, The Developmental Endocrinology Research Group, Institute of Child Health, Hospital for Children NHS Trust, University College London, Great Ormond Street, London, UK. K.Hussain@ich.ucl.ac.uk
D044903:Congenital Hyperinsulinism / Q000235:genetics*; D003920:Diabetes Mellitus / Q000151:congenital* / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000151:congenital / Q000235:genetics; D005941:Glucokinase / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D050417:Insulin-Secreting Cells / Q000201:enzymology* / Q000378:metabolism; D008954:Models, Biological; D009154:Mutation / Q000502:physiology
D005941:Glucokinase