Congenital generalized lipodystrophy

Definition:

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries are also observed in this disease. Patients typically have low serum levels of leptin and adiponectin. Several genes were studied to identify the molecular alteration responsible for CGL, which have been found to contribute to lipid droplet formation in adipocytes.

References:

[1]. Anil K Agarwal, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002 May;31(1):21-3. [Content Brief]

[2]. B Friguls, et al. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. Eur J Med Genet. 2009 Jan-Feb;52(1):14-6. [Content Brief]

[3]. C A Kim, et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. [Content Brief]

[4]. Karina Braga Gomes, et al. Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). Clin Chim Acta. 2009 Apr;402(1-2):1-6. [Content Brief]

[5]. Vinaya Simha, et al. Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol. 2009 Aug;20(4):300-8. [Content Brief]

[6]. Yukiko K Hayashi, et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009 Sep;119(9):2623-33. [Content Brief]

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