Chanarin-Dorfman SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Chanarin-Dorfman Syndrome
Chanarin-Dorfman syndrome is a condition in which fats (lipids) build up in the body. Affected individuals have trouble breaking down certain fats called triglycerides; these fats then accumulate in organs and tissues, including the skin, liver, muscles, intestine, and bone marrow.
Several variants (also called mutations) in the ABHD5 gene have been found to cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) an enzyme called adipose triglyceride lipase (ATGL). This enzyme breaks down triglycerides, which are a major source of stored energy in cells. The ATGL enzyme helps break triglycerides down into simpler molecules called fatty acids, which the body can then use for energy.
Chanarin-Dorfman syndrome is a rare condition. Approximately 150 people with this condition have been reported in the literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Daniela Tavian practices practicing medicine in Milan, Italy. Ms. Tavian is rated as an Elite expert by MediFind in the treatment of Chanarin-Dorfman Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Chanarin-Dorfman Syndrome, Lymphedema-Distichiasis Syndrome, Enlarged Liver, and Glutaric Acidemia Type 2.
Atrium Health Primary Care Internal Medicine Steele Creek
Terry Short is a primary care provider, practicing in Internal Medicine in Charlotte, North Carolina. Dr. Short is rated as an Experienced provider by MediFind in the treatment of Chanarin-Dorfman Syndrome. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses High Cholesterol, Hypertension, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Short is board certified in American Board Of Internal Medicine. Dr. Short is currently accepting new patients.
Novant Health Traditions Concierge Medicine
Thomas Batchelor is a primary care provider, practicing in Internal Medicine in Charlotte, North Carolina. He has been practicing medicine for over 32 years. Dr. Batchelor is rated as a Distinguished provider by MediFind in the treatment of Chanarin-Dorfman Syndrome. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Cholesteryl Ester Storage Disease, Lipidosis with Triglycerid Storage Disease, Lysosomal Acid Lipase Deficiency, and Cerebrotendinous Xanthomatosis. Dr. Batchelor is board certified in Internal Medicine.
Published Date: May 07, 2024
Published By: National Institutes of Health