Abstract
Background Congenital generalized lipodystrophies (CGL) or Berardinelli-Seip Congenital Lipodystrophy (BSCL) are rare autosomal recessive disorders with reduction of subcutaneous and visceral adipose tissue, associated with deregulation of lipidic and glycidic metabolism, most of them developing insulin resistance and diabetes mellitus during the second decade of life. There are four CGL syndromes described (CGL-1 to 4) caused by mutations in AGPAT2, BSCL2, CAV1 and PTRF. The mutations in AGPAT2 and BSCL2 are responsible for 95% of reported cases worldwide and 87% in Brazilian reported cases. BSCL2 variants usually lead to more severe symptoms in comparison to AGPAT2 ones.
Highlights
Congenital generalized lipodystrophies (CGL) or Berardinelli-Seip Congenital Lipodystrophy (BSCL) are rare autosomal recessive disorders with reduction of subcutaneous and visceral adipose tissue, associated with deregulation of lipidic and glycidic metabolism, most of them developing insulin resistance and diabetes mellitus during the second decade of life
The mutations in AGPAT2 and BSCL2 are responsible for 95% of reported cases worldwide and 87% in Brazilian reported cases
BSCL2 variants usually lead to more severe symptoms in comparison to AGPAT2 ones
Summary
Congenital generalized lipodystrophies (CGL) or Berardinelli-Seip Congenital Lipodystrophy (BSCL) are rare autosomal recessive disorders with reduction of subcutaneous and visceral adipose tissue, associated with deregulation of lipidic and glycidic metabolism, most of them developing insulin resistance and diabetes mellitus during the second decade of life. There are four CGL syndromes described (CGL-1 to 4) caused by mutations in AGPAT2, BSCL2, CAV1 and PTRF. The mutations in AGPAT2 and BSCL2 are responsible for 95% of reported cases worldwide and 87% in Brazilian reported cases. BSCL2 variants usually lead to more severe symptoms in comparison to AGPAT2 ones
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