ORPHA:832
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Synonyms: OXCT1 deficiency · SCOT deficiency · Succinyl-CoA acetoacetate transferase deficiency · Succinyl-CoA:3-ketoacid CoA transferase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Succinyl-CoA:3-oxoacid CoA transferase deficiency | OXCT1 deficiency · SCOT deficiency · Succinyl-CoA acetoacetate transferase deficiency · Succinyl-CoA:3-ketoacid CoA transferase deficiency |
| fr | Déficit en succinyl-CoA:3-oxoacide CoA transférase | Déficit en OXCT1 · Déficit en SCOT · Déficit en succinyl-CoA acétoacétate transférase · Déficit en succinyl-CoA:3-cétoacide CoA transférase |
| de | Succinyl-CoA:3-Ketosäure-CoA-Transferase-Mangel | OXCT1-Mangel · SCOT-Mangel · Succinyl-CoA Acetoacetat Transferase-Mangel · Succinyl-CoA:3-Oxosäure-CoA-Transferase-Mangel |
| es | Deficiencia de succinil-CoA: 3 oxoácido CoA transferasa | Deficiencia de OXCT1 · Deficiencia de SCOT · Deficiencia de succinil-CoA acetoacetato transferasa · Deficiencia de succinil-CoA:3-cetoácido-CoA transferasa |
| it | Deficit di succinil-CoA:3-oxoacido CoA transferasi | Deficit di OXCT1 · Deficit di SCOT · Deficit di succinil-CoA acetoacetato transferasi · Deficit di succinil-CoA:3-chetoacido CoA transferasi |
| nl | Deficiëntie van succinyl-CoA:3-oxozuur-CoA-transferase | Deficiëntie van succinyl-CoA-acetoacetaattransferase · Deficiëntie van succinyl-CoA:3-ketozuur-CoA-transferase · OXCT1-deficiëntie · SCOT-deficiëntie |
| pt | Deficiência de succinil-CoA:3 oxoácida CoA transferase | Deficiência OXCT1 · Deficiência SCOT · Deficiência de succinil-CoA acetoacetato transferase |
| pl | Niedobór transferazy sukcynylo-CoA:3-ketokwasu CoA | Niedobór OXCT1 · Niedobór SCOT · Niedobór transferazy acetoacetatu sukcynylo-CoA · Niedobór transferazy sukcynylo-CoA:3-ketokwasu CoA |
| cs | Deficit sukcinyl-CoA:3-ketokyselina-CoA transferázy | Deficit OXCT1 · Deficit SCOT · Deficit sukcinyl-CoA acetoacetát transferázy · Deficit sukcinyl-CoA:3-oxokyselina-CoA transferázy |
| uk | Дефіцит сукциніл-КоА:3-оксокислої КоА-трансферази | Дефіцит OXCT1 · Дефіцит SCOT · Дефіцит сукциніл-КоА ацетоацетаттрансферази · Дефіцит сукциніл-КоА:3-кетокислої КоА-трансферази |
| zh | 琥珀酰辅酶A：3酮酸辅酶A转移酶缺乏症 | 琥珀酰辅酶A-酮酸辅酶A转移酶缺乏症 |
| tr | Süksinil-CoA: 3-ketoasit CoA transferaz eksikliği | SCOT eksikliği · OXCT1 eksikliği · Süksinil-CoA asetoasetat transferaz eksikliği · Süksinil-CoA: 3-oksoasit CoA transferaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245050 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.02 | NTBT | index | validated |
| MONDO | 0009492 | E | validated | |
| MeSH | C537527 | E | validated | |
| UMLS | C0342792 | E | validated | |
| GARD | 4774 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79183Disorder of ketolysis
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OXCT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8527 | ENSG00000083720 | 601424 | 5p13.1 | 3-oxoacid CoA-transferase 1 | 23420214[PMID]_21296660[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
14 annotations · validated 2025-05-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001993 | Ketoacidosis | |
| HP:6000361 | Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts | |
| Frequent (79-30%) | ||
| HP:0410175 | Hyperketonemia | |
| HP:0002919 | Ketonuria | |
| HP:0002789 | Tachypnea | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0001640 | Cardiomegaly | |
| HP:0001259 | Coma | |
| HP:0004325 | Decreased body weight | |
| HP:0001944 | Dehydration | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001252 | Hypotonia | |
| HP:0001254 | Lethargy | |
| HP:0002018 | Nausea | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 34765403[PMID]_33596448[PMID]_21296660[PMID]_9392403[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/832
- This record as JSON: /data/d/832.json