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SCOT deficiency

Other Names for this Disease
  • 3-oxoacid CoA transferase deficiency
  • Ketoacidosis due to SCOT deficiency
  • Succinyl-CoA acetoacetate transferase deficiency
  • Succinyl-CoA:3-oxoacid CoA transferase deficiency
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SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. SCOT deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months).[1] In ketoacidosis ketones build-up in the body. Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma.[1] Crises need to be addressed immediately. Fortunately these crises tend to respond well to IV fluids including glucose and sodium bicarbonate. Patients with SCOT defiency are symptom free between episodes. This deficiency can be caused by mutations in the OXCT1 gene.[2]
Last updated: 9/4/2010


  1. Fukao T. Succinyl-CoA transferase (SCOT) deficiency. Orphanet Encyclopedia. 2004; Accessed 9/2/2010.
  2. Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency. Online Mendelian Inheritance in Man. 2002; Accessed 7/10/2009.
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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss SCOT deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles