IEMbase 0623: CAD-related trifunctional protein deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 623 |
| Nosology | 16.1.01.02 |
| Gene | CAD |
| External IDs | OMIM:616457; ORPHA:448010 |
| Generated mapping | CANDIDATE; Mitochondrial_Trifunctional_Protein_Deficiency.yaml |
| Candidate DisMech targets | False lexical candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents CAD-related trifunctional protein deficiency / CAD-CDG / early infantile epileptic encephalopathy 50 as an autosomal recessive disorder. The cached treatability field is unknown, but the record includes a uridine treatment row with level 4 evidence from PMID:32820246 and a reported neurodevelopmental effect.
Biochemical rows include normal serum sialotransferrins, normal urinary orotic acid, and normal urinary pyrimidines. Clinical and characteristic rows include optional swallowing difficulties, dyserythropoietic anemia, anisocytosis, developmental regression, epilepsy, and poikilocytosis.
DisMech phenotype coverage
Mitochondrial_Trifunctional_Protein_Deficiency.yaml is a false lexical
candidate. Mitochondrial trifunctional protein deficiency is a HADHA/HADHB
long-chain fatty-acid oxidation disease; CAD is a multifunctional de novo
pyrimidine-biosynthesis enzyme and a different disease entity.
No exact local CAD/CAD-CDG/uridine-responsive epileptic encephalopathy entry was identified.
Concordance and completeness
Judgement: true local gap.
This is a high-value curation candidate because the IEMbase record includes a specific treatment signal. The normal urinary orotic acid, normal urinary pyrimidines, and normal sialotransferrin rows are important caveats to preserve rather than filters against the diagnosis.
Curation actions
- Do not map to mitochondrial trifunctional protein deficiency.
- Curate CAD/CAD-CDG/EIEE50 as a separate pyrimidine-biosynthesis disorder if selected.
- Preserve uridine treatment, epilepsy/regression, dyserythropoietic anemia, red-cell morphology, swallowing difficulty, and normal biochemical-caveat rows during source review.