1. Permanent neonatal diabetes in an Asian infant.
- Author
-
Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, and Gloyn AL
- Subjects
- Consanguinity, Female, Homozygote, Humans, Infant, Newborn, Pakistan ethnology, Pedigree, Asian People, Diabetes Mellitus, Type 1 genetics, Glucokinase genetics, Mutation, Missense genetics
- 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.
- Published
- 2005
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