A case of neonatal diabetes.
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.
Gopal
Raju A
RA
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai 400012.
Acharya
Shrikrishna V
SV
Bandgar
Tushar R
TR
Menon
Padma S
PS
Shah
Nalini S
NS
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
C577507:ABCC8 protein, human; D018528:ATP-Binding Cassette Transporters; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors