Congenital generalized lipodystrophy type 4
Other Names: Lipodystrophy, congenital generalized, type 4; CGL4; Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy; Lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy; Generalized congenital lipodystrophy with myopathy; GCL4
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat since birth with predisposition to insulin resistance, diabetes, hypertriglyceridemia, and hepatic steatosis.
A mutation in the PTRF gene causes Type 4 CGL. This gene codes for a protein called polymerase I and transcript release factor. One of the roles the PTRF product has it to stabilize and aid in formation of caveolae. Thus, the mechanism is similar to Type 3, in that the caveolae are unable to properly form and carry out their role in lipid regulation in both. Types 3 and 4 are two different mutations but they share a common defective pathway.
NIH genetic and rare disease info
Congenital generalized lipodystrophy type 4 is a rare disease.