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.
Domino's Farms
Dr. Elif Oral is a professor in the Division of Metabolism, Endocrinology and Diabetes (MEND) at the University of Michigan. She completed her medical education in her home country of Turkey at the University of Istanbul. In 1996, she completed her residency in Internal Medicine at Sinai Hospital Detroit (Michigan). She then completed a fellowship in Endocrinology, Metabolism and Diabetes at the National Institute of Health, where she also chose to stay as a Senior Fellow under the mentorship of Drs SimeonTaylor and Phillip Gorden in in the Diabetes Branch of NIDDK.Since joining the University of Michigan in 2002 as an Assistant Professor of Medicine, along with her regular faculty responsibilities, Dr. Oral also completed a Masters of Science Degree in Clinical Research Design and Biostatistics at the School of Public Health. Her clinical interests are in insulin resistance, obesity, lipid disorders, and diabetes.Dr Oral's research focuses on the importance of adipocytes in human metabolism and adipocyte hormones such as leptin. She is best known for her work showing the remarkable efficacy of leptin in rare lipodystrophy syndromes. Metreleptin received approval by the FDA (2014) and EMA (2016) as a treatment for lipodystrophy owing to a large part to her original vision and work. These studies provided the basis for her current work with three big goals: identification of novel metabolic diseases, discovery of new disease mechanisms and finding treatments for patients afflicted with these disorders. In addition to her roles as physician, educator, and researcher, Dr Oral is also the director of two programs at MEND: Atypical Diabetes Program and Obesity and Metabolic Disorders Program. She directed the Post-Bariatric Surgery Care Program from 2012 to 2021 and continues to conduct research on the cohort of patients who had bariatric surgery performed in the Michigan Bariatric Surgery program. 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.
University Of Texas Southwestern Medical Center
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 15 other conditions, according to our data. His clinical expertise encompasses Acrorenal Mandibular Syndrome, Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Familial Hypertriglyceridemia, and Gastric Bypass.
Baris Akinci practices practicing medicine in Dokuz Eylul, Turkey. Mr. Akinci is rated as an Elite expert by MediFind in the treatment of Congenital Generalized Lipodystrophy. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, Gigantism, and Familial Hypertriglyceridemia.
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: This is an open-label, Phase 3b study to evaluate effectiveness, safety and pharmacokinetic parameters of metreleptin in patients under 6 years of age with generalised lipodystrophy and associated diabetes mellitus and/or hypertriglyceridaemia
Published Date: January 01, 2019
Published By: National Institutes of Health