Learn About Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats into energy, particularly during periods without food (fasting).
Variants (also called mutations) in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people.
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.
Childrens Health Care Associates Inc
Rebecca Ganetzky is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ganetzky has been practicing medicine for over 15 years and is rated as a Distinguished provider by MediFind in the treatment of Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency. Her top areas of expertise are Leigh Syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Pyruvate Carboxylase Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.
Jirair Bedoyan is a Medical Genetics specialist and a Pediatrics provider in Pittsburgh, Pennsylvania. Dr. Bedoyan and is rated as an Experienced provider by MediFind in the treatment of Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency. His top areas of expertise are Pyruvate Dehydrogenase Deficiency, Pyruvate Decarboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Urea Cycle Disorders (UCD), and Gastrostomy. Dr. Bedoyan is currently accepting new patients.
Childrens Health Care Associates Inc
Amy Goldstein is an Endocrinologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Goldstein and is rated as an Advanced provider by MediFind in the treatment of Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency. Her top areas of expertise are Leigh Syndrome, Kearns-Sayre Syndrome, Maternally Inherited Leigh Syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, and Gastrostomy.
Published Date: June 26, 2023
Published By: National Institutes of Health