Generalized lipodystrophy type 1 due to compound heterozygous mutation of AGPAT2 gene: One case report and literature review
10.3760/cma.j.cn311282-20201118-00771
- VernacularTitle:AGPAT2基因复合杂合突变导致全身性脂肪营养不良1型一例并文献复习
- Author:
Juan ZHANG
1
;
Zhongyun ZHANG
;
Haorong LI
;
Xuyang CHEN
;
Rulai HAN
;
Lei YE
;
Yiran JIANG
;
Jieli LU
;
Yulin ZHOU
;
Weiqing WANG
;
Weiqiong GU
Author Information
1. 上海交通大学医学院附属瑞金医院内分泌代谢病科，上海市内分泌代谢病研究所，国家代谢性疾病临床医学研究中心 200025
- Keywords:
Generalized lipodystrophy type 1;
AGPAT2 gene;
Gene diagnosis;
Abnormal lipid metabolism
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(9):840-844
- CountryChina
- Language:Chinese
-
Abstract:
Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.
