Succinyl-CoA:3-oxoacid CoA transferase deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency, often called SCOT deficiency, is an inborn error of ketone body utilization. The enzyme involved normally moves coenzyme A from succinyl-coenzyme A to acetoacetate, and the deficiency can be caused by mutation in the OXCT1 gene. It was first described in 1972, and the article counts 34 people reported in the medical literature. Affected people have attacks of ketoacidosis during illness, and even when well they may have raised ketone bodies in the blood and urine, known as ketonemia and ketonuria. Not everyone with the deficiency has persistent ketonemia and ketonuria, particularly those with milder defects of enzyme activity.