title: A case of neonatal diabetes.
abstract: A one month old baby was admitted for diabetic keto-acidosis. There was no neurological or dysmorphic features. On genetic analysis a heterozygous missense mutation of ABCC8 gene which codes for SUR1 was detected. His insulin requirement progressively came down and by 6 months insulin was stopped and child now maintains normoglycaemia. Activating mutation in sulphonylurea receptor SUR1 is a very rare but described cause of neonatal diabetes mellitus.
authors.affiliation: Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai 400012.
authors.forename: Raju A
authors.initials: RA
authors.lastname: Gopal
authors.forename: Shrikrishna V
authors.initials: SV
authors.lastname: Acharya
authors.forename: Tushar R
authors.initials: TR
authors.lastname: Bandgar
authors.forename: Padma S
authors.initials: PS
authors.lastname: Menon
authors.forename: Nalini S
authors.initials: NS
authors.lastname: Shah
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000502:physiology; D016883:Diabetic Ketoacidosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D024661:Potassium Channels, Inwardly Rectifying / Q000502:physiology; D011955:Receptors, Drug / Q000502:physiology; D064233:Sulfonylurea Receptors
chemical_list: C577507:ABCC8 protein, human; D018528:ATP-Binding Cassette Transporters; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors