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Case Reports
. 2022 Apr 20;10(4):e05720.
doi: 10.1002/ccr3.5720. eCollection 2022 Apr.

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

Abdulrrahman Hummadi  1 , Ahmed Ali Nahari  1   2 , Ali Jaber Alhagawy  1   3 , Ibrahim Zakri  1 , Raed Abutaleb  1   3 , Saeed Yafei  1   4
Affiliations
Case Reports

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

Abdulrrahman Hummadi et al. Clin Case Rep. .

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.

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Conflict of interest statement

The authors declare that they have no competing interests.

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