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

Catli, Gonul; ABACI, AYHAN; Flanagan, Sarah; Anik, Ahmet; Ellard, Sian; BÖBER, ECE

doi:10.1016/j.diabres.2012.10.009

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, Scopus)

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
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.