Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report

Abstract

Abstract Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanthosis due to very rare homozygous 1‐acylglycerol‐3‐phosphate O‐acyltransferase β (AGPAT2) genetic variant.

Keywords

• AGPAT2
• Berardinelli–Seip congenital lipodystrophy
• lipodystrophy