ea0063p610 | Diabetes, Obesity and Metabolism 2 | ECE2019
Magno Silvia
, Ceccarini Giovanni
, Pelosini Caterina
, Ferrari Federica
, Scabia Gaia
, Maffei Margherita
, Vitti Paolo
, Santini Ferruccio
Berardinelli-Seip congenital lipoatrophy type 1 (BSCL1) is a rare autosomal recessive disease caused by mutations in the AGPAT2 gene. This syndrome is characterized by near total absence of adipose tissue since birth, associated with the progressive development of metabolic complications. The AGPAT2 gene encodes for 1-acylglycerol-3phosphate-O-acyltransferase highly expressed in white adipocytes that catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a...