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
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
