IEMbase 0230: CPT2-related Carnitine palmitoyltransferase 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 230 |
| Nosology | 4.1.03.01 |
| Gene | CPT2 |
| External IDs | OMIM:255110 |
| Generated mapping | CANDIDATE; Carnitine_Palmitoyltransferase_II_Deficiency.yaml |
| Candidate DisMech targets | Carnitine_Palmitoyltransferase_II_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as CPT2-related carnitine palmitoyltransferase 2 deficiency, with the alternate label carnitine palmitoyl-CoA transferase 2 deficiency. The record is autosomal recessive and treatability is marked unknown.
The biochemical rows include C16 and C18 long-chain acylcarnitines, free carnitine, C14:0, creatine kinase, transaminases, hypoketotic hypoglycemia context, dicarboxylic organic acids, and glucose. Clinical rows include brain and kidney malformations. Characteristic rows include cardiomyopathy, coma, muscular-axial hypotonia, lethargy, liver dysfunction, exercise-induced rhabdomyolysis, and skeletal myopathy. Treatments listed by IEMbase are fasting avoidance, carbohydrate-rich/long-chain-triglyceride-restricted diet, and L-carnitine supplements.
DisMech phenotype coverage
Carnitine_Palmitoyltransferase_II_Deficiency.yaml is the correct target.
The local entry covers biallelic CPT2 disease, impaired inner-mitochondrial
CPT II activity, long-chain acylcarnitine accumulation, decreased free
carnitine, hypoketotic hypoglycemia, neonatal severe, infantile hepatic-cardiac,
and myopathic phenotypes, cardiomyopathy, arrhythmia, liver dysfunction,
myopathy, recurrent rhabdomyolysis, exercise intolerance, neuronal migration
defects, renal cysts, fasting avoidance, dietary fat management, MCT context,
and acute dextrose support.
Concordance and completeness
Judgement: accept generated candidate as correct file-level mapping with high concordance.
IEMbase and DisMech agree on CPT2 identity, carnitine-shuttle mechanism, long-chain acylcarnitine/free-carnitine abnormalities, hypoketotic crises, cardiac, hepatic, and skeletal-muscle involvement, exercise-induced rhabdomyolysis, and fasting/dietary management. IEMbase adds compact rows for L-carnitine supplementation and brain/kidney malformations; DisMech is richer for phenotype stratification and distinguishing CPT II disease from CPT1A and CACT.
Curation actions
- Promote the candidate to a confirmed mapping:
Carnitine_Palmitoyltransferase_II_Deficiency.yaml. - No new disease entry is needed.
- Consider IEMbase malformation rows only after checking subtype-specific evidence.