SCOT Deficiency

Succinyl-CoA : 3-ketoacid CoA transferase (SCOT) deficiency is a typical ketolytic defect, in which extrahepatic tissues cannot use the ketone bodies produced by the liver. This disorder is characterized clinically by intermittent ketoacidosis with, however, no clinical symptoms between these episodes. The first ketoacidotic episode usually develops in the neonatal period or early childhood (6-20mo). Some patients show developmental delay and limitations in cognitive functioning; in the most severe cases, patients die of the sequela of the ketoacidotic attack. (Source: Orphanet)

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