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Diseases

Genetic and Rare Diseases Information Center (GARD)

SCOT deficiency


Other Names for this Disease
  • Succinyl-CoA:3-oxoacid CoA transferase deficiency
  • Ketoacidosis due to SCOT deficiency
  • Succinyl-CoA acetoacetate transferase deficiency
  • 3-oxoacid CoA transferase deficiency
  • OXCT1 deficiency
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Tests & Diagnosis

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How is SCOT deficiency diagnosed?

Diagnosis of SCOT deficiency is made in people showing the signs and symptoms of the condition and who have absent or reduced SCOT enzyme activity.[1]
Last updated: 9/4/2010

References
  1. Fukao T. Succinyl-CoA transferase (SCOT) deficiency. Orphanet Encyclopedia. 2004; http://www.orpha.net/data/patho/GB/uk-scot.pdf. Accessed 9/2/2010.


Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • Succinyl-CoA:3-oxoacid CoA transferase deficiency
  • Ketoacidosis due to SCOT deficiency
  • Succinyl-CoA acetoacetate transferase deficiency
  • 3-oxoacid CoA transferase deficiency
  • OXCT1 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.