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.
authors.affiliation: Birmingham Children's Hospital, Birmingham, UK. j.porter@bham.ac.uk
authors.forename: J R
authors.initials: JR
authors.lastname: Porter
authors.forename: N J
authors.initials: NJ
authors.lastname: Shaw
authors.forename: T G
authors.initials: TG
authors.lastname: Barrett
authors.forename: A T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: S
authors.initials: S
authors.lastname: Ellard
authors.forename: A L
authors.initials: AL
authors.lastname: Gloyn
mesh_terms: D044466:Asian People; D003241:Consanguinity; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense / Q000235:genetics*; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree
chemical_list: D005941:Glucokinase