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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / metabolism
  • Diabetes Mellitus / physiopathology
  • Female
  • Humans
  • Hyperglycemia / etiology
  • Hyperglycemia / prevention & control
  • Hyperphagia / etiology
  • Hyperphagia / prevention & control
  • Hypoglycemic Agents / therapeutic use
  • Infant
  • Insulin / genetics*
  • Insulin / metabolism
  • Insulin, Isophane / therapeutic use
  • Insulin, Regular, Human / therapeutic use
  • Isophane Insulin, Human
  • Mosaicism
  • Mothers
  • Mutation, Missense*
  • Polyuria / etiology
  • Polyuria / prevention & control
  • Treatment Outcome

Substances

  • Hypoglycemic Agents
  • Insulin
  • Insulin, Regular, Human
  • Isophane Insulin, Human
  • Insulin, Isophane

Supplementary concepts

  • Diabetes Mellitus, Permanent Neonatal