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Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
Features include always present findings: Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 1 | Vomiting |
Kidneys and urinary system | 1 | Elevated urinary 3-hydroxybutyric acid |
OXCT1 encodes 3-oxoacid CoA-transferase 1 (520 aa). Key enzyme for ketone body catabolism. Highest expression in Brain Cerebellar Hemisphere (83.0 TPM) and Cells EBV-transformed lymphocytes (68.3 TPM).
Succinyl-CoA:3-ketoacid CoA transferase deficiency is associated with mutations in the OXCT1 gene on chromosome 5.
OXCT1 is classified as a druggable target (Enzyme category) with score 0.0.
Genetic testing for OXCT1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for succinyl-CoA:3-ketoacid CoA transferase deficiency.
8 publications have been identified in PubMed for succinyl-CoA:3-ketoacid CoA transferase deficiency. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (25%), and Gene Therapy / Novel Therapeutics (25%).
Adachi N (2026). [PMID: 41521529](https://pubmed.ncbi.nlm.nih.gov/41521529/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Ye Y (2026). [PMID: 41865434](https://pubmed.ncbi.nlm.nih.gov/41865434/). *Int J Biol Macromol*. [Gene Therapy / Novel Therapeutics]
Omachi S (2026). [PMID: 41801188](https://pubmed.ncbi.nlm.nih.gov/41801188/). *FASEB J*. [Basic Science / Preclinical]
Kahraman AB (2025). [PMID: 40960113](https://pubmed.ncbi.nlm.nih.gov/40960113/). *Turk Arch Pediatr*. [Epidemiology / Natural History]
Augur ZM (2025). [PMID: 40898372](https://pubmed.ncbi.nlm.nih.gov/40898372/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]
Hamdeh MA (2025). [PMID: 40406160](https://pubmed.ncbi.nlm.nih.gov/40406160/). *JIMD Rep*. [Case Report / Case Series]
Keller MA (2025). [PMID: 41147386](https://pubmed.ncbi.nlm.nih.gov/41147386/). *J Am Heart Assoc*. [Basic Science / Preclinical]
Zhu CX (2024). [PMID: 38759889](https://pubmed.ncbi.nlm.nih.gov/38759889/). *J Hepatol*. [Gene Therapy / Novel Therapeutics]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center