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

Permanent neonatal diabetes in an Asian infant

J R Porter  1 , N J Shaw, T G Barrett, A T Hattersley, S Ellard, A L Gloyn
Affiliations
Review

Permanent neonatal diabetes in an Asian infant

J R Porter et al. J Pediatr. 2005 Jan.

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.

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