title: Permanent neonatal diabetes caused by a novel mutation in the INS gene.
abstract: Neonatal diabetes mellitus (DM) is a rare condition that can be either transient or permanent. In this case report, we describe a novel mutation (p.L30Q) in the INS gene resulting in permanent DM in a four-month-old female who presented with polyphagia, polyuria, irritability, and hyperglycemia with glucosuria and ketonuria without acidosis.
authors.affiliation: Department of Pediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey.
authors.forename: Gonul
authors.initials: G
authors.lastname: Catli
authors.forename: Ayhan
authors.initials: A
authors.lastname: Abaci
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Ahmet
authors.initials: A
authors.lastname: Anik
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Ece
authors.initials: E
authors.lastname: Bober
mesh_terms: D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D006801:Humans; D006943:Hyperglycemia / Q000209:etiology / Q000517:prevention & control; D006963:Hyperphagia / Q000209:etiology / Q000517:prevention & control; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D007328:Insulin / Q000235:genetics* / Q000378:metabolism; D007336:Insulin, Isophane / Q000627:therapeutic use; D061386:Insulin, Regular, Human / Q000627:therapeutic use; D000068880:Isophane Insulin, Human; D009030:Mosaicism; D009035:Mothers; D020125:Mutation, Missense; D011141:Polyuria / Q000209:etiology / Q000517:prevention & control; D016896:Treatment Outcome
chemical_list: D007004:Hypoglycemic Agents; D007328:Insulin; D061386:Insulin, Regular, Human; D000068880:Isophane Insulin, Human; D007336:Insulin, Isophane