Hyperinsulinemic hypoglycemia 3
Congenital hyperinsulinism, nesidioblastosis is the most common cause of persistent hypoglycemia in infancy which is caused by increased insulin secretion despite of low blood glycose levels. The most important complication is cerebral damage as a result of prolonged hypoglycemia. Type 3 of the disease is caused by GCK mutations.
Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.[^]
Glaser B et al. (1998) Familial hyperinsulinism caused by an activating glucokinase mutation.[^]
Christesen HB et al. (2002) The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.[^]
Cuesta-Muñoz AL et al. (2004) Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.[^]
Kassem S et al. (2010) Large islets, beta-cell proliferation, and a glucokinase mutation.[^]
OMIM.ORG articleOmim 602485 [^]