Congenital Generalized Lipodystrophy: A Multisystemic Metabolic Disorder
Journal Title: International Journal of Clinical Endocrinology and Metabolism - Year 2016, Vol 2, Issue 1
Abstract
Introduction: Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with severe insulin resistance. It is caused by mutations in the gene for AGPAT-2 on chromosome 9 or BSCL-2/Seipin on chromosome 11 resulting in triglyceride-depleted adipocytes. BSCL-2/Seipin is a cell autonomous regulator of lipolysis essential for adipocyte differentiation.
Authors and Affiliations
Tewari Vishal V, Meht Ritu
Keywords
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- EP ID EP541998
- DOI 10.17352/ijcem.000013
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