Sulfonylurea-responsive diabetes in childhood.

We describe a family in which 3/6 siblings had transient, relapsing neonatal diabetes. The father and another sibling had diabetes diagnosed at 20 and 9 years old, respectively. All affected individuals carried the same KCNJ11 gene mutation.

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

Hyperinsulinism of infancy is a genetically heterogeneous disease characterized by dysregulation of insulin secretion resulting in severe hypoglycemia. To date, mutations in five different genes, the sulfonylurea receptor (SUR1, ABCC8), the inward rectifying potassium channel (K(IR)6.2, KCNJ11), glucokinase (GCK), glutamate dehydrogenase (GLUD1), and short-chain 3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD), have been implicated.