IEMbase 0408: MT-TE-related mitochondrial tRNA(Glu) deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 408 |
| Nosology | 6.2.06.01 |
| Gene | MT-TE |
| External IDs | OMIM:500009; ORPHA:254864 |
| Generated mapping | UNMAPPED; low candidate Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml |
| Candidate DisMech targets | Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents MT-TE-related mitochondrial tRNA(Glu) deficiency, also listed as mitochondrial myopathy with reversible cytochrome c oxidase deficiency. The source variant is m.14674T>C and inheritance is mitochondrial. Biochemical rows include increased plasma creatine kinase and lactate in neonatal/infantile stages with normalization later. Clinical rows include hypotonia and decreased tendon reflexes, while characteristic rows include liver dysfunction, macroglossia, and myopathy. There are no treatment rows.
DisMech phenotype coverage
The generated unmapped status is a false negative. Local
Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml directly models
reversible infantile cytochrome c oxidase deficiency as an MT-TE/mt-tRNA(Glu)
disease, most commonly due to homoplasmic m.14674T>C and less often
m.14674T>G. It covers mitochondrial inheritance, reduced mt-tRNA(Glu), impaired
mitochondrial translation and respiratory-chain function, COX-deficient
mitochondrial myopathy, ragged-red and COX-negative fibers, infantile hypotonia,
lactate, macroglossia, liver involvement, and spontaneous clinical/biochemical
recovery.
Local DisMech is stronger for the molecular mechanism and recovery model. IEMbase adds a compact age-banded presentation for CK, lactate, hypotonia, reflexes, liver dysfunction, macroglossia, and myopathy.
Concordance and completeness
Judgement: false negative; resolve to
Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml.
The resources agree on disease identity, MT-TE/mt-tRNA(Glu), m.14674T>C, mitochondrial inheritance, infantile COX-deficient myopathy, lactate/CK abnormalities, and reversible age course.
Curation actions
- Map this record to
Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml. - Consider adding IEMbase's explicit decreased tendon reflexes and CK/lactate age-banding after source verification.
- Preserve the distinction from MT-TE m.14709T>C mitochondrial myopathy with diabetes mellitus.