title: A family with permanent neonatal diabetes due to a novel mutation in INS gene.
abstract: In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS gene missense mutation, p.A24V, manifested with marked hyperglycemia and ketoacidosis, unstable glycemic control, requiring insulin therapy, rapid progression of long-term complications and accompanying physical pathological signs and brain lesions.
authors.affiliation: Department of Diabetology, Clinical Center of Endocrinology, Medical University Sofia, 2, Zdrave str., Sofia 1431, Bulgaria. Electronic address: dr.roumyana.dimova@gmail.com.
authors.forename: Rumyana
authors.initials: R
authors.lastname: Dimova
authors.affiliation: Department of Diabetology, Clinical Center of Endocrinology, Medical University Sofia, 2, Zdrave str., Sofia 1431, Bulgaria.
authors.forename: Tsvetalina
authors.initials: T
authors.lastname: Tankova
authors.affiliation: Department of Neurology, Medical University Sofia, 1, Sv. G. Sofiiski str., Sofia 1431, Bulgaria.
authors.forename: Ivelina
authors.initials: I
authors.lastname: Gergelcheva
authors.affiliation: Department of Neurology, Medical University Sofia, 1, Sv. G. Sofiiski str., Sofia 1431, Bulgaria.
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.affiliation: Paediatric Hospital, Medical University Sofia, 11, Akad. Ivan Geshov boul., Sofia 1431, Bulgaria.
authors.forename: Maya
authors.initials: M
authors.lastname: Konstantinova
mesh_terms: D000328:Adult; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D006943:Hyperglycemia / Q000209:etiology; D007328:Insulin / Q000235:genetics* / Q000627:therapeutic use; D007662:Ketosis / Q000209:etiology; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
chemical_list: D007328:Insulin
keywords: Heterozyguos INS gene mutation; Permanent neonatal diabetes