Succinyl-CoA:3-Ketoacid CoA Transferase DeficiencySymptoms, Doctors, Treatments, Advances & More
Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency Overview
Learn About Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats.
Mutations in the OXCT1 gene cause SCOT deficiency. The OXCT1 gene provides instructions for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are an important source of energy during fasting or when energy demands are increased, such as during illness or when exercising.
The prevalence of SCOT deficiency is unknown. More than 20 cases of this condition have been reported in the scientific literature.
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.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
Anthony Perszyk is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Perszyk is rated as an Advanced provider by MediFind in the treatment of Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics. Dr. Perszyk is currently accepting new patients.
University Hospitals
James Strainic is a Pediatric Cardiologist practicing medicine in Cleveland,, Ohio. Dr. Strainic is rated as an Experienced provider by MediFind in the treatment of Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency. He is also highly rated in 38 other conditions, according to our data. His clinical expertise encompasses Pulmonary Atresia, Pulmonary Atresia with Intact Ventricular Septum, Ventricular Septal Defects, and Bicuspid Aortic Valve. Dr. Strainic is currently accepting new patients.
Jorn Sass practices practicing medicine in Rheinbach, Germany. Mr. Sass is rated as a Distinguished expert by MediFind in the treatment of Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Beta-Ketothiolase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, and Canavan Disease.
Published Date: December 01, 2011
Published By: National Institutes of Health