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Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
Abdulrrahman Hummadi1, Ahmed Ali Nahari1,2, Ali Jaber Alhagawy1,3
1Jazan Endocrinology and Diabetes Center Ministry of Health Jazan Saudi Arabia.
Clinical Case Reports
|April 27, 2022
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.
