Permanent neonatal diabetes caused by a novel mutation in the INS gene


Catli G., ABACI A., Flanagan S. E., Anik A., Ellard S., BÖBER E.

DIABETES RESEARCH AND CLINICAL PRACTICE, vol.99, no.1, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 99 Issue: 1
  • Publication Date: 2013
  • Doi Number: 10.1016/j.diabres.2012.10.009
  • Journal Name: DIABETES RESEARCH AND CLINICAL PRACTICE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Neonatal diabetes mellitus, INS gene, Insulin, INSULIN GENE, MELLITUS
  • Dokuz Eylül University Affiliated: Yes

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. (C) 2012 Elsevier Ireland Ltd. All rights reserved.