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

被引：3
|
作者：
Hummadi, Abdulrrahman [1 ]
Nahari, Ahmed Ali [1 ,2 ]
Alhagawy, Ali Jaber [1 ,3 ]
Zakri, Ibrahim [1 ]
Abutaleb, Raed [1 ,3 ]
Yafei, Saeed [1 ,4 ]
机构：
[1] Minist Hlth, Jazan Endocrinol & Diabet Ctr, Jazan, Saudi Arabia
[2] King Fahad Cent Hosp, King Fahd Diabet & Endocrinol Ctr, Jazan, Saudi Arabia
[3] Minist Hlth, Jazan Hlth Affairs, Jazan, Saudi Arabia
[4] Taiz Univ, Fac Med & Hlth Sci, Internal Med Dept, Taizi, Yemen
来源：
CLINICAL CASE REPORTS | 2022年 / 10卷 / 04期
关键词：
AGPAT2; Berardinelli-Seip congenital lipodystrophy; lipodystrophy; DISORDERS; MUTATION;
D O I：
10.1002/ccr3.5720
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGI.1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanthosis due to very rare homozygous 1-acylglycerol-3-phosphate O-acyltransferase beta (AGPAT2) genetic variant.
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页数：5
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