IEMbase 0708: MT-ND4-related NADH dehydrogenase core subunit 4 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 708 |
| Nosology | 6.1.21.01 |
| Nosology code | IEM0433 |
| Gene | MT-ND4 |
| External IDs | OMIM:252010; ORPHA:99718 |
| Generated mapping | UNMAPPED; weak generated candidate to Pyruvate_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact MT-ND4 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents maternally inherited MT-ND4-related NADH dehydrogenase core subunit 4 deficiency. The cached source label lacks a space between "related" and "NADH"; preserve this as a source-label cleanup issue rather than as a biological distinction.
Biochemical rows show decreased fibroblast complex I activity and increased plasma lactate across all age windows. Clinical rows include childhood-to-adult dystonia, adolescent/adult Leber hereditary optic neuropathy, and adult MELAS-like features. The characteristic clinical row lists Leigh syndrome across all age windows.
DisMech phenotype coverage
No exact MT-ND4 local target was identified.
Leigh_Syndrome.yaml provides broad context for mtDNA complex I-related Leigh
syndrome, and MELAS_Syndrome.yaml provides mitochondrial-gene MELAS context
focused most explicitly on MT-ND5. Neither entry models MT-ND4 as a specific
complex I deficiency target. No exact local LHON target was identified.
The weak generated Pyruvate_Dehydrogenase_Deficiency.yaml candidate is not
exact coverage.
Concordance and completeness
Judgement: true local gap with broad mitochondrial syndrome overlap only.
The IEMbase row combines complex I biochemical deficiency with Leigh, LHON, dystonia, and adult MELAS-like features. Local syndrome entries provide useful context but not MT-ND4 disease-level completeness.
Curation actions
- Add a dedicated MT-ND4 complex I deficiency target if curated.
- Reject pyruvate dehydrogenase deficiency as exact coverage.
- Preserve the source-label spacing anomaly for cleanup.
- Preserve decreased complex I activity, increased lactate, dystonia, LHON, adult MELAS-like features, and Leigh syndrome.