IEMbase 0440: TUFM-related mitochondrial elongation factor Tu deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 440 |
| Nosology | 10.3.05.01 |
| Gene | TUFM |
| External IDs | OMIM:610678; ORPHA:254925 |
| Generated mapping | UNMAPPED; low candidate Mitochondrial_Trifunctional_Protein_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents TUFM-related mitochondrial elongation factor Tu deficiency, also called combined oxidative phosphorylation defect 4 (COXPD4). It records autosomal recessive inheritance. Biochemical rows include decreased respiratory chain activity in fibroblasts and markedly increased plasma lactate. Clinical rows include neonatal, infantile, or childhood encephalopathy, leukodystrophy, and death. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for TUFM/COXPD4. No local TUFM- or COXPD4-specific disease file was identified.
The generated Mitochondrial_Trifunctional_Protein_Deficiency.yaml candidate is
a false positive. Local mitochondrial trifunctional protein deficiency is a
HADHA/HADHB long-chain fatty-acid oxidation disorder with long-chain
hydroxyacylcarnitines, hypoketotic hypoglycemia, cardiomyopathy,
rhabdomyolysis, liver disease, and neuropathy. It does not represent TUFM
mitochondrial translation dysfunction or COXPD4.
Concordance and completeness
Judgement: true TUFM/COXPD4 local gap; reject mitochondrial trifunctional protein deficiency as an exact mapping.
The generated candidate shares mitochondrial wording but differs in gene, proximal mechanism, pathway, and expected biomarker profile.
Curation actions
- Keep this record unmapped until a TUFM mitochondrial elongation factor Tu deficiency or COXPD4 target exists.
- Do not map to
Mitochondrial_Trifunctional_Protein_Deficiency.yaml. - If curated, include TUFM, autosomal recessive inheritance, mitochondrial translation elongation-factor dysfunction, combined OXPHOS deficiency, decreased fibroblast respiratory-chain activity, severe lactic acidosis, encephalopathy, leukodystrophy, and early death.