hrp0082p3-d2-784 | Fat Metabolism & Obesity (1) | ESPE2014

A New Lipodystrophy Syndrome?

von Schnurbein Julia , Fischer-Posovszky Pamela , Garg Abhimanyu , Wabitsch Martin

Background: Congenital generalized lipodystrophy (CGL) is characterized by the absence of most adipose tissue at birth due to an adipocyte differentiation block. For several forms of CGL, the underlying mutation and pathophysiological pathway has been identified. However, for many cases the genetic cause is still unknown.Objective and hypotheses: We report a patient with CGL who showed a complete absence of fat apart from protective fat pads in a postnat...

hrp0084p1-35 | Diabetes | ESPE2015

Effect of 6 Months Therapy with Metreleptin in an African American Boy with Congenital Generalised Lipodystrophy

Ten Svetlana , Bhangoo Amrit , Khurana Divya , Flyer Mark , Garg Abhimanyu

Background: Congenital generalised lipodystrophy (CGL) is a rare autosomal recessive disorder which presents with near total lack of adipose tissue and extreme insulin resistant diabetes. Metreleptin, an analogue of leptin was made through recombinant DNA technology. It was approved to treat CGL from February 2014.Our case represent successful use of Metreleptin in a child with diabetes developed secondary to CGL.Case presentation: A 14-years-old African...