succinyl-CoA:3-ketoacid CoA transferase deficiency
Findings
No curated finding names succinyl-CoA:3-ketoacid CoA transferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009492), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblastsHPOHP:6000361
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- KetoacidosisHPOHP:0001993
- Very frequent (80% to 99% of cases)
- HyperketonemiaHPOHP:0410175
- Frequent (30% to 79% of cases)
- KetonuriaHPOHP:0002919
- Frequent (30% to 79% of cases)
- TachypneaHPOHP:0002789
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
Show the remaining 4
- LethargyHPOHP:0001254
- Occasional (5% to 29% of cases)
- NauseaHPOHP:0002018
- Occasional (5% to 29% of cases)
- Elevated urinary 3-hydroxybutyric acidHPOHP:0040155
- Episodic ketoacidosisHPOHP:0005974
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- OXCT1HGNC:8527
- Definitive · Illumina · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: succinyl-CoA:3-ketoacid CoA transferase deficiency
- Also called
- OXCT1 deficiencySCOT deficiencySuccinyl CoA:3-oxoacid CoA transferase deficiencysuccinyl-CoA acetoacetate transferase deficiencysuccinyl-CoA:3-oxoacid CoA transferase deficiency