IEMbase 0709: MT-ND4L-related NADH dehydrogenase core subunit 4L deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 709 |
| Nosology | 6.1.22.01 |
| Nosology code | IEM0434 |
| Gene | MT-ND4L |
| External IDs | OMIM:252010; ORPHA:104 |
| Generated mapping | UNMAPPED; weak generated candidate to Pyruvate_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/LHON context only; no exact MT-ND4L target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents maternally inherited MT-ND4L-related NADH dehydrogenase core subunit 4L deficiency.
The cached phenotype signal is sparse. Biochemical rows show decreased fibroblast complex I activity across neonatal, infantile, childhood, adolescent, and adult windows. The characteristic clinical row lists Leber hereditary optic neuropathy in adolescent and adult windows.
DisMech phenotype coverage
No exact MT-ND4L local target was identified.
Leigh_Syndrome.yaml gives broad complex I mitochondrial context, but this
IEMbase row is specifically MT-ND4L and LHON-oriented. No exact local LHON
target was identified.
The weak generated Pyruvate_Dehydrogenase_Deficiency.yaml candidate is not an
mtDNA complex I subunit disease and should not be used as coverage.
Concordance and completeness
Judgement: true local gap.
The IEMbase record is concise but specific: MT-ND4L complex I activity deficiency with LHON. Broad mitochondrial entries do not replace an exact MT-ND4L/LHON-associated complex I target.
Curation actions
- Add a dedicated MT-ND4L complex I deficiency or LHON-associated target if curated.
- Reject pyruvate dehydrogenase deficiency as exact coverage.
- Preserve decreased complex I activity and adolescent/adult LHON.