Activating mutations in one of the two subunits of the ATP-sensitive potassium (KATP) channel cause neonatal diabetes (ND). This may be either transient or permanent and, in approximately 20% of patients, is associated with neurodevelopmental delay. In most patients, switching from insulin to oral sulfonylurea therapy improves glycemic control and ameliorates some of the neurological disabilities. Here, we review how KATP channel mutations lead to the varied clinical phenotype, how sulfonylureas exert their therapeutic effects, and why their efficacy varies with individual mutations.
Trends Endocrinol Metab
377 - 387
Blood Glucose, Diabetes Mellitus, Humans, Hypoglycemic Agents, Infant, Newborn, KATP Channels, Mutation, Sulfonylurea Compounds