IEMbase 0175: OXCT1-related SCOT deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 175 |
| Nosology | 4.3.02.01 |
| Gene | OXCT1 |
| External IDs | OMIM:245050; ORPHA:832 |
| Generated mapping | UNMAPPED; best candidate Lipoyl_Transferase_1_Deficiency.yaml |
| Candidate DisMech targets | None valid |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as OXCT1-related succinyl-CoA:3-oxoacid CoA transferase deficiency, with alternate label SCOT deficiency. Treatability is marked yes.
The biochemical rows emphasize ketone-body utilization: blood and urinary acetoacetate, plasma and urinary ketones, and urinary 3-hydroxybutyric acid range from normal to markedly increased; urinary C6-C10 dicarboxylic acids can be normal to increased; acylglycine, acylcarnitine, serum free carnitine, serum free fatty acids, ammonia, and lactate are represented as normal; and glucose is decreased to normal. Clinical rows include variable cardiomegaly or cardiomyopathy, coma during ketoacidotic episodes, hypoglycemia, acidosis, lethargy, and tachypnea. The treatment row lists avoiding fasting.
DisMech phenotype coverage
No valid local DisMech target was found. The generated best candidate,
Lipoyl_Transferase_1_Deficiency.yaml, is a false positive. LIPT1 disease is
a lipoylation/mitochondrial dehydrogenase-complex disorder, not an OXCT1
ketone-body utilization disorder. Local search did not find SCOT, OXCT1, or a
ketolysis-defect entry.
Concordance and completeness
Judgement: true local gap.
IEMbase describes a distinct ketone-body catabolism disorder with recurrent ketoacidosis and fasting sensitivity. DisMech does not currently have a standalone OXCT1/SCOT deficiency entry.
Curation actions
- Do not map this record to
Lipoyl_Transferase_1_Deficiency.yaml. - Add a future OXCT1/SCOT deficiency entry.
- Expected future coverage: OXCT1, succinyl-CoA:3-oxoacid CoA transferase deficiency, impaired ketone-body utilization, recurrent ketoacidotic crises, acetoacetate/3-hydroxybutyrate/ketone elevation, normal or near-normal ammonia and lactate, hypoglycemia as variable context, cardiomyopathy review, and fasting avoidance/sick-day management.