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

Abdulrrahman HummadiAhmed Ali NahariAli Jaber AlhagawyIbrahim ZakriRaed AbutalebSaeed Yafei

Published in: Clinical case reports (2022)

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.

Keyphrases

saudi arabia
intellectual disability
genome wide
copy number
risk factors
autism spectrum disorder
gene expression
adipose tissue
metabolic syndrome
skeletal muscle
weight loss