Short-Chain Acyl-CoA Dehydrogenase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Short-Chain Acyl-CoA Dehydrogenase Deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids. 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.
This disorder is thought to affect approximately 1 in 35,000 to 50,000 newborns.
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.
Northwell Health Center For Advanced Medicine, RJ Zuckerberg Cancer Center
Nouneh Gostanian is an Oncologist in Lake Success, New York. Dr. Gostanian is rated as an Advanced provider by MediFind in the treatment of Short-Chain Acyl-CoA Dehydrogenase Deficiency. Her top areas of expertise are Paget Disease of the Breast, Breast Cancer, Inflammatory Breast Cancer, and Angiosarcoma.
Piedmont Orthopedics - OrthoAtlanta Fayetteville
Kevin U. Park, M.D., is a board certified orthopaedic surgeon, fellowship trained in spine surgery. His practice includes adult degenerative cervical, thoracic and lumbar spinal pathology, traumatic spinal injuries, motion preservation technology, also known as total disc arthroplasty, and minimally invasive spinal surgery. Dr. Park has conducted research and presented at both national and international meetings. As an avid golfer, his research studying the ability of golfers to return to sport after lumbar fusion has been both an intellectual and personal endeavor. Preserving quality of life in patients led Dr. Park to become a spine surgeon. Utilizing techniques such as motion preservation technology and minimally invasive procedures can influence patient outcome, returning them to the things they love doing.Dr. Park makes presentations on the topic of scoliosis and innovative treatment techniques within the communities in which he serves. Dr. Park is also fluent in Korean. Dr. Park is rated as an Advanced provider by MediFind in the treatment of Short-Chain Acyl-CoA Dehydrogenase Deficiency. His top areas of expertise are Scoliosis, Sciatica, Spondylolisthesis, Microdiscectomy, and Herniated Disc Surgery.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
. Dr. Perszyk is rated as an Experienced provider by MediFind in the treatment of Short-Chain Acyl-CoA Dehydrogenase Deficiency. His top areas of expertise are Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3.
Published Date: May 01, 2015
Published By: National Institutes of Health