Permanent neonatal diabetes in an Asian infant.
case_report · Level V
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- Record sourced from PubMed, PMID 15644838.
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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.
Medical subject headings
- Asian People
- Diabetes Mellitus, Type 1
- Glucokinase
- Mutation, Missense