Succinyl-CoA:3-ketoacid CoA transferase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Definition
Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
Also known as OXCT1 deficiency, SCOT deficiency, Succinyl CoA:3-oxoacid CoA transferase deficiency, succinyl-CoA acetoacetate transferase deficiency, succinyl-CoA:3-ketoacid CoA transferase deficiency, succinyl-CoA:3-oxoacid CoA transferase deficiency — per MONDO