Format

Send to

Choose Destination
J Indian Med Assoc. 2009 Nov;107(11):822, 824.

A case of neonatal diabetes.

Author information

1
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai 400012.

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.

PMID:
20469787
[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center