IEMbase 0748: ACSL4-related long-chain fatty acid-CoA ligase 4 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 748 |
| Nosology | 14.1.01.02 |
| Nosology code | IEM0655 |
| Gene | ACSL4 |
| External IDs | OMIM:300387; ORPHA:86818 |
| Generated mapping | UNMAPPED; weak candidate VLCAD_Deficiency.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase labels this X-linked record as ACSL4-related long-chain fatty acid-CoA ligase 4 deficiency, with alternate name X-linked mental retardation 63. The cached signal is sparse but specific: decreased enzyme activity in fibroblasts and white blood cells in adulthood, and characteristic intellectual disability in adolescent and adult age bands.
DisMech phenotype coverage
No exact ACSL4 / X-linked intellectual disability 63 entry is present locally.
Wilsons_Disease.yaml mentions ACSL4 only as pathway context for ferroptosis;
it is not ACSL4-related disease coverage.
The generated VLCAD_Deficiency.yaml candidate is a false positive. VLCAD
deficiency is an ACADVL long-chain fatty acid beta-oxidation disorder with a
different gene, inheritance context, biochemical mechanism, and clinical
presentation.
Concordance and completeness
Judgement: true local gap.
The IEMbase record is concise and mainly establishes disease identity, X-linked inheritance, reduced ACSL4 activity, and intellectual disability. That is enough to distinguish it from fatty acid oxidation disorders such as VLCAD.
Curation actions
- Add a distinct ACSL4 / X-linked intellectual disability 63 target if this disease is brought into DisMech.
- Reject
VLCAD_Deficiency.yamlas exact or partial identity coverage. - Preserve the enzyme-activity evidence separately from phenotype assertions.