Permanent neonatal diabetes in an Asian infant

J Pediatr. 2005 Jan;146(1):131-3. doi: 10.1016/j.jpeds.2004.09.008.

Abstract

We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Asian People*
  • Consanguinity
  • Diabetes Mellitus, Type 1 / genetics*
  • Female
  • Glucokinase / genetics*
  • Homozygote
  • Humans
  • Infant, Newborn
  • Mutation, Missense / genetics*
  • Pakistan / ethnology
  • Pedigree

Substances

  • Glucokinase