Open AccessCongenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
Author(s) -
Hummadi Abdulrrahman,
Nahari Ahmed Ali,
Alhagawy Ali Jaber,
Zakri Ibrahim,
Abutaleb Raed,
Yafei Saeed
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5720
Subject(s) - lipoatrophy , medicine , acanthosis nigricans , hypertriglyceridemia , lipodystrophy , pediatrics , dermatology , diabetes mellitus , endocrinology , insulin resistance , triglyceride , immunology , human immunodeficiency virus (hiv) , cholesterol , viral load , antiretroviral therapy
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.