Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder characterized by extreme lack of body fat and severe insulin resistance since birth.

Etiology

 Locus 9q34: mutations in 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2)

• AGPAT2 catalyses the acylation of the lysophosphatidic acid at the sn-2 position to form phosphatidic acid, a key intermediate in the biosynthesis of triacylglycerol and glycerophospholipids.
• High expression of AGPAT2 mRNA in adipose tissue compared to other isoforms suggests that the mutations might affect the adipose tissue the most.
• The function of BSCL2 remains unknown.

 Locus 11q13 (Berardinelli-Seip congenital lipodystrophy 2): germline mutations in the BSCL2 gene coding for seipin

References

 Agarwal AK, Barnes RI, Garg A. Genetic basis of congenital generalized lipodystrophy. Int J Obes Relat Metab Disord. 2004 Feb;28(2):336-9. PMID: #14557833#