Congenital Generalized LipodystrophySymptoms, Doctors, Treatments, Advances & More
Learn About Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.
Mutations in the AGPAT2, BSCL2, CAV1, and CAVIN1 genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of these genes reduce or eliminate the function of their respective proteins, which impairs the development, structure, or function of adipocytes and makes the body unable to store and use fats properly. These abnormalities of adipose tissue disrupt hormones and affect many of the body's organs, resulting in the varied signs and symptoms of congenital generalized lipodystrophy.
Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of Lebanon and Brazil.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Office Of Smita R. Ramanadham, MD
Smita Ramanadham is a Plastic Surgeon practicing medicine in East Brunswick, New Jersey. Dr. Ramanadham is rated as a Distinguished provider by MediFind in the treatment of Congenital Generalized Lipodystrophy. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Breast Enlargement In Males, Keloids, and Pancreaticoduodenectomy. Dr. Ramanadham is board certified in Plastic Surgery, 2015. Dr. Ramanadham is currently accepting new patients.
Domino's Farms
Elif Oral is an Endocrinologist practicing medicine in Ann Arbor, Michigan. Dr. Oral is rated as an Elite provider by MediFind in the treatment of Congenital Generalized Lipodystrophy. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Familial Hypertriglyceridemia, Gastric Bypass, and Sleeve Gastrectomy. Dr. Oral is board certified in Endocrinology, Diabetes & Metabolism. Dr. Oral is currently accepting new patients.
Office
Abhimanyu Garg is an Endocrinologist practicing medicine in Dallas, Texas. Dr. Garg is rated as an Elite provider by MediFind in the treatment of Congenital Generalized Lipodystrophy. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Acrorenal Mandibular Syndrome, Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Familial Hypertriglyceridemia, and Gastric Bypass. Dr. Garg is currently accepting new patients.
Summary: This study is researching a new drug called mibavademab (called study drug). The study involves participants with a condition called Generalized Lipodystrophy (GLD). The aim of the study is to see how well mibavademab works and what side effects it has. Researchers will also look at how much mibavademab is in the body at different times. This is a 2-part study: Part A is an efficacy study in pedia...
Summary: The study is a post-authorization, prospective, voluntary registry of patients treated with commercial metreleptin including, but not limited to, patients in the US and EEA.
Published Date: January 01, 2019
Published By: National Institutes of Health