hrp0084p3-732 | Diabetes | ESPE2015

Severe Insulin Resistance and Dyslipidaemia with Unremarkable Fat Distribution in an Adolescent Girl due to Mutation in the PPARG Gene (Familial Partial Lipodystrophy Type 3)

Doing Carsten , Kummer Sebastian , Savage David , Salgin Burak , Sample Robert , Mayatepek Ertan , Meissner Thomas

Background: Mutations in the PPARG gene, encoding peroxisome proliferator-activated receptor-gamma (PPARG) are associated with Familial lipodystrophy type 3. PPARG regulates fatty acid storage and glucose metabolism. The genes activated by PPARG stimulate lipid uptake and adipogenese by fat cells. In cases of lipodystrophy and defects of adipogenesis lipoid accumulates ectopically in the liver, skeletal muscle, pancreas and cardiovascular tissues and impairs the function of th...