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

A case of neonatal diabetes.

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


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.

[Indexed for MEDLINE]

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