x

Search for a rare disease

* (*) mandatory field
Suggest an update

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Succinyl-CoA:3-ketoacid CoA transferase deficiency

Disease definition

Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.

ORPHA:832

  • 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: -
  • MeSH: -
  • GARD: 4774
  • MedDRA: -

Detailed information

Professionals

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.