Contributor: Gordon K. Klintworth
Congenital generalized lipodystrophy type 1 (Berardinelli-Seip syndrome, Berardinelli-Seip congenital lipodystrophy type 1, OMIM # 608594) is an autosomal recessive disorder characterized a pronounced generalized paucity of adipose tissue, steatosis of the liver, hypertriglyceridemia and an early onset of diabetes mellitus that is insulin resistant.  This variety of congenital  lipodystrophy is caused by mutations in the AGPAT2 gene. Congenital generalized lipodystrophy type 1 needs to be differentiated from congenital lipodystrophy type 2 [lipodystrophy - congenital generalized type 2].