title: Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene.
abstract: Neonatal/infancy-onset diabetes mellitus is a monogenic form of diabetes with onset within 6 months of age. Two distinct types of neonatal diabetes mellitus have been recognized: permanent and transient. Mutations within the K(+)ATP channel and insulin genes are found in most patients with permanent diabetes mellitus. There have been several reports of the successful transition from insulin to sulfonylurea agents in patients with permanent diabetes mellitus caused by mutations in the KCNJ11 gene. We report on a term female neonate with a novel missense mutation, p.P1199L, in the ABCC8 gene that encodes the sulfonylurea receptor 1 whose treatment was successfully converted from insulin to sulfonylurea.
authors: Akdeniz University Medical School, Department of Pediatrics, Division of Neonatology, Antalya, Turkey. oztekinmd@yahoo.com
authors: O
authors: O
authors: Oztekin
authors: E
authors: E
authors: Durmaz
authors: S
authors: S
authors: Kalay
authors: S E
authors: SE
authors: Flanagan
authors: S
authors: S
authors: Ellard
authors: I
authors: I
authors: Bircan
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D003920:Diabetes Mellitus / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use*; D007231:Infant, Newborn; D020125:Mutation, Missense; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011955:Receptors, Drug / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*; D064233:Sulfonylurea Receptors
chemical_list: D018528:ATP-Binding Cassette Transporters; D007004:Hypoglycemic Agents; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors