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Diabetes Res Clin Pract. 2013 Jan;99(1):e5-8. doi: 10.1016/j.diabres.2012.10.009. Epub 2012 Oct 27.

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

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  • 1Department of Pediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey.

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.

Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

PMID:
23107109
[PubMed - indexed for MEDLINE]
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