IEMbase 0231: ACADVL-related Very long-chain acyl-CoA dehydrogenase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 231 |
| Nosology | 4.2.03.01 |
| Gene | ACADVL |
| External IDs | OMIM:201475 |
| Generated mapping | MAPPED; VLCAD_Deficiency.yaml |
| Candidate DisMech targets | VLCAD_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ACADVL-related very long-chain acyl-CoA dehydrogenase deficiency, with the alternate label VLCAD. The record is autosomal recessive and treatability is marked yes.
The biochemical rows include C14:1, C14:1/C12:1 and C14:1/C4 ratios, C16 and C18 acylcarnitine species, free carnitine, C14:0, creatine kinase, transaminases, hypoketotic hypoglycemia context, dicarboxylic organic acids, and glucose. Characteristic rows include cardiomyopathy, coma, muscular-axial hypotonia, lethargy, liver dysfunction, exercise-induced rhabdomyolysis, and skeletal myopathy. Treatments listed by IEMbase are fasting avoidance, bezafibrate, and triheptanoin.
DisMech phenotype coverage
VLCAD_Deficiency.yaml is the correct target. The local entry covers biallelic
ACADVL disease, impaired very-long-chain acyl-CoA dehydrogenase activity for
C12-C20 substrates, C14:1 as the principal diagnostic marker, C14/C16/C18
long-chain acylcarnitines, hypoketotic hypoglycemia, neonatal cardiac and
multiorgan disease, hepatic crises, later-onset myopathic disease,
exercise/fasting/cold/illness-triggered rhabdomyolysis, cardiomyopathy,
arrhythmia, liver dysfunction, creatine kinase elevation, dietary management,
pre-exercise carbohydrate/MCT support, triheptanoin, and cardiac management.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on ACADVL/VLCAD identity, long-chain fatty-acid oxidation mechanism, C14:1-centered diagnosis, long-chain acylcarnitines, hypoketotic crisis biology, cardiomyopathy, hepatic involvement, skeletal myopathy, exercise-induced rhabdomyolysis, fasting avoidance, and triheptanoin. IEMbase adds concise ratio prompts and bezafibrate as a treatment-review item.
Curation actions
- Keep this record mapped to
VLCAD_Deficiency.yaml. - No mapping correction is needed.
- Use the IEMbase C14:1 ratio and bezafibrate rows as targeted enrichment prompts if VLCAD treatment/biomarker coverage is refreshed.