Permanent neonatal diabetes in an Asian infant.

John Porter; Nicholas Shaw; Timothy Barrett; AT Hattersley; S Ellard; AL Gloyn

doi:10.1016/j.jpeds.2004.09.008

Permanent neonatal diabetes in an Asian infant.

John Porter
, Nicholas Shaw
, Timothy Barrett
, AT Hattersley
, S Ellard
, AL Gloyn

Birmingham Medical School

Research output: Contribution to journal › Article

49 Citations (Scopus)

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.

Original language	English
Pages (from-to)	131-3
Number of pages	3
Journal	The Journal of pediatrics
Volume	146
Issue number	1
DOIs	https://doi.org/10.1016/j.jpeds.2004.09.008
Publication status	Published - 1 Jan 2005

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10.1016/j.jpeds.2004.09.008

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title = "Permanent neonatal diabetes in an Asian infant.",

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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AU - Shaw, Nicholas

AU - Barrett, Timothy

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AU - Ellard, S

AU - Gloyn, AL

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AB - 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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DO - 10.1016/j.jpeds.2004.09.008

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Permanent neonatal diabetes in an Asian infant.

Abstract

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