Congenital generalized lipodystrophy type 1
Overview
Congenital generalized lipodystrophy type 1 is an autosomal recessive disorder characterized a pronounced generalized paucity of adipose tissue, steatosis of the liver, hypertriglyceridemia and an early onset of diabetes mellitus that is insulin resistant.
Symptoms
The syndrome often includes the following features: organomegaly, muscle hypertrophy, acanthosis nigricans, hyperandrogenism, hyperlipidemia, and hyperinsulinemia or insulin-resistant diabetes.
Causes
It is caused by mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2).