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

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...

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Detalles Bibliográficos
Autores principales: Hummadi, Abdulrrahman, Nahari, Ahmed Ali, Alhagawy, Ali Jaber, Zakri, Ibrahim, Abutaleb, Raed, Yafei, Saeed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020436/
https://www.ncbi.nlm.nih.gov/pubmed/35474974
http://dx.doi.org/10.1002/ccr3.5720
Descripción
Sumario: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.

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