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Congenital Generalized Lipodystrophy

Abstract

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NORD is very grateful to Abhimanyu Garg, MD, Professor of Internal Medicine, Chief, Division of Nutrition and Metabolic Diseases, Distinguished Chair in Human Nutrition Research, UT Southwestern Medical Center at Dallas, for assistance in the preparation of this report.

Synonyms of Congenital Generalized Lipodystrophy

  • Berardinelli-Seip syndrome
  • Berardinell Seip congenital lipodystrophy
  • BSCL
  • CGL
  • congenital lipoatrophic diabetes

Disorder Subdivisions

  • CGL type 1
  • CGL type 2
  • CGL type 3
  • CGL type 4

General Discussion

Summary
Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is a rare genetic disorder characterized by the near total loss of body fat (adipose tissue) that is often present at birth (congenital). Affected individuals also have a marked muscular appearance at birth. CGL is associated with metabolic complications related to insulin resistance such as an inability to break down (metabolize) glucose (glucose intolerance), elevated levels of triglycerides (fat) in the blood (hypertriglyceridemia), and diabetes. Diabetes associated with CGL is often very difficult to treat. Additional complications such as those affecting the liver and heart can also occur. The symptoms and severity of CGL can vary greatly from one person to another. There are four different subtypes of CGL each caused by mutations in different gene. All of the known types of CGL are inherited as autosomal recessive conditions.

Introduction
Lipodystrophy is a general term for a group of disorders that are characterized by complete (generalized) or partial loss of adipose tissue. In addition to CGL, there are other inherited forms of lipodystrophy. Some forms of lipodystrophy are not inherited, but acquired at some point during life (acquired lipodystrophy). The degree of severity and the specific areas of the body affected can vary among the lipodystrophies. The loss of adipose tissue that characterizes these disorders is sometimes referred to as lipoatrophy rather than lipodystrophy by some physicians. CGL was first described in the medical literature by Dr. Berardinelli in 1954 and reviewed by Dr. Seip in 1959.

Congenital Generalized Lipodystrophy Resources

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