Berardinelli Seip congenital lipodystrophy presenting with neonatal diabetes mellitus due to a mutation in the AGPAT2 gene

Poovazhagi, V and Shanthirani, S and Jahnavi, S and Radha, V and Mohan, V (2013) Berardinelli Seip congenital lipodystrophy presenting with neonatal diabetes mellitus due to a mutation in the AGPAT2 gene. International Journal of Diabetes in Developing Countries, 33 (1). p. 66. ISSN 0973-3930

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Abstract

Neonatal diabetes mellitus (NDM) with hypoinsulinism is an uncommon condition with an estimated incidence from 1 in 3,00,000 to 4,00,000 live births [1]. Diabetes mellitus with hyperinsulinism due to Berardinelli Seip Congenital Lipodystrophy( BSCL) presenting in the neonatal period is even rarer [2]. We report a child with neonatal onset BSCL having mutation of the AGPAT 2 gene diagnosed at the age of 42 days

Item Type:Article
Official URL/DOI:http://dx.doi.org/10.1007/s13410-012-0099-6
Uncontrolled Keywords:neonatal diabetes; AGPAT2 gene; lipodystrophy presenting
Subjects:Genetics and Diabetes
Diabetes
Divisions:Department of Epidemiology
Neonatal Diabetes
Department of Diabetology
ID Code:756
Deposited By:surendar radha
Deposited On:16 Oct 2013 14:19
Last Modified:16 Oct 2013 14:19

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