Catalog

Succinyl-CoA acetoacetate transferase deficiency

No MMS code

Link to WHO Definition

Succinyl-CoA acetoacetate transferase deficiency – http://id.who.int/icd/entity/1541815077

Succinyl-CoA acetoacetate transferase deficiency is a ketolytic defect, in which extrahepatic tissues cannot use the ketone bodies produced by the liver. This disorder is characterised clinically by intermittent ketoacidosis with, however, no clinical symptoms between these episodes. Ketoacidotic episodes are usually severe and the first episode develops in the neonatal period or early childhood (6-20mo).