Neonatal Diabetes and the KATP Channel: From Mutation to Therapy.

Ashcroft FM., Puljung MC., Vedovato N.

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.

DOI

10.1016/j.tem.2017.02.003

Type

Journal article

Publication Date

2017-05-01T00:00:00+00:00

Volume

28

Pages

377 - 387

Total pages

10

Keywords

Blood Glucose, Diabetes Mellitus, Humans, Hypoglycemic Agents, Infant, Newborn, KATP Channels, Mutation, Sulfonylurea Compounds

Permalink More information Close