Orphanet: Succinyl CoA:3 ketoacid CoA transferase deficiency

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Succinyl-CoA:3-ketoacid CoA transferase deficiency

Disease definition

A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.


Classification level: Disorder
  • Synonym(s):
    • OXCT1 deficiency
    • SCOT deficiency
    • Succinyl-CoA acetoacetate transferase deficiency
    • Succinyl-CoA:3-oxoacid CoA transferase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 245050
  • UMLS: C0342792
  • MeSH: -
  • GARD: 4774
  • MedDRA: -

Detailed information


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