Permanent neonatal diabetes in an Asian infant.

Journal article

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.

Authors: Porter, JR; Shaw, N; Barrett, T; Hattersley, A; Ellard, S

• Journal: Journal of pediatrics
• Volume: 146
• Issue: 1
• Pages: 131-133
• Publication date: 2005-01-01
• DOI: 10.1016/j.jpeds.2004.09.008
• EISSN: 1097-6833
• ISSN: 0022-3476
• Language: English
• Keywords: Homozygote; Asian Continental Ancestry Group; Infant, Newborn; Pakistan; Mutation, Missense; Glucokinase; Humans; Consanguinity; Pedigree; Female; Diabetes Mellitus, Type 1