IEMbase 0532: ETFDH-related myopathic CoQ10 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 532 |
| Nosology | 4.2.08.02 |
| Gene | ETFDH |
| External IDs | OMIM:231675; ORPHA:394529 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml#ETFDH |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents an ETFDH-related myopathic form of CoQ10 deficiency. The record is autosomal recessive, subtype is marked idiopathic, treatability is marked unknown, and no treatment rows are listed.
The biochemical rows include normal-to-increased C4-C18 acylcarnitines in dried blood spot and plasma, low or normal free carnitine, normal-to-increased plasma creatine kinase, normal-to-increased urinary C6-C10 dicarboxylic acids, and normal-to-increased urinary glutaric acid. Clinical rows include episodic encephalopathy, liver dysfunction, vomiting, and characteristic muscle weakness.
DisMech phenotype coverage
The generated UNMAPPED status is a false negative. The best local target is
Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml, not the primary CoQ10
deficiency umbrella. The MADD file explicitly covers ETFDH as a definitive
disease gene, late-onset riboflavin-responsive MADD, broad acylcarnitine
abnormalities, glutaric and dicarboxylic aciduria, elevated CK, lipid storage
myopathy, proximal muscle weakness, episodic decompensation, liver involvement,
vomiting, riboflavin, carnitine, and CoQ10 adjunctive context.
The local file also captures newer ETFDH-CoQ biology through ETFDH-driven mitochondrial redox/metabolon disruption, which explains why an IEMbase label can foreground CoQ10 while the disease target remains ETFDH/MADD.
Concordance and completeness
Judgement: false negative; resolve to Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml
with ETFDH/myopathic late-onset context.
IEMbase and DisMech agree on ETFDH identity, autosomal recessive inheritance, acylcarnitine and dicarboxylic-organic-acid abnormalities, glutaric acid, elevated CK, muscle weakness, and episodic systemic involvement. IEMbase is a compact myopathic-facet row; DisMech already has richer ETFDH/MADD mechanism and treatment coverage.
Curation actions
- Map this record to
Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml#ETFDH. - Do not create a separate primary CoQ10 deficiency mapping unless the scope is intentionally split from ETFDH/MADD.
- Preserve the CoQ10-deficiency label as a synonym/facet prompt, plus CK, acylcarnitine, dicarboxylic-acid, glutaric-acid, liver, vomiting, episodic encephalopathy, and muscle-weakness rows.