Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP ‐sensitive potassium channel ( KCNJ 11)

Abstract

Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life . A KCNJ 11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosis may influence the clinical management of the disorder.