Permanent neonatal diabetes in an Asian infant.
Porter JR., Shaw NJ., Barrett TG., Hattersley AT., Ellard S., Gloyn AL.
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.