IEMbase 0239: ETFDH-related Multiple acyl-CoA dehydrogenase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 239 |
| Nosology | 4.2.08.01 |
| Gene | ETFDH |
| External IDs | OMIM:231675 |
| Generated mapping | MAPPED; Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ETFDH-related multiple acyl-CoA dehydrogenase deficiency, with alternate labels glutaric aciduria type 2C and MAD deficiency. The record is autosomal recessive and treatability is marked unknown.
Treatment rows include beta-hydroxybutyrate, CoQ10, low-fat/low-protein diet, riboflavin, and carnitine. Biochemical rows include broad acylglycine and acylcarnitine elevations, low or normal free carnitine, creatine kinase and transaminase elevations, low ketones during hypoglycemia, dicarboxylic and organic acids including D-2-hydroxyglutaric, glutaric, ethylmalonic, adipic, sebacic, and suberic acids, and low-normal glucose. Clinical and characteristic rows include congenital brain and kidney anomalies, metabolic acidosis, renal cysts, cardiomyopathy, coma, hypotonia, lethargy, liver dysfunction, exercise-induced rhabdomyolysis, and skeletal myopathy.
DisMech phenotype coverage
Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml is the correct local target.
The file covers ETFDH-driven MADD, including ETFDH as a definitive gene,
ETF-QO/electron-transfer biology, broad acylcarnitine abnormalities, glutaric
and dicarboxylic aciduria, hypoketotic hypoglycemia, metabolic acidosis,
hepatic disease, myopathy, rhabdomyolysis, cardiomyopathy, and severe neonatal
and late-onset riboflavin-responsive forms. It is especially strong for
ETFDH-associated late-onset riboflavin-responsive MADD, including riboflavin,
CoQ10, carnitine, fasting/crisis management, nutrition context, and recent
ETFDH mechanistic evidence.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on ETFDH/MADD identity, the broad multiple-acyl-CoA dehydrogenase biochemical signature, muscle and liver involvement, rhabdomyolysis, severe congenital presentations, and riboflavin/CoQ10/carnitine treatment context. IEMbase is useful as a compact checklist of analytes and diet rows; DisMech is richer for ETFDH-specific mechanism and riboflavin-responsive late-onset disease.
Curation actions
- Keep this record mapped to
Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml. - No mapping correction is needed.
- Use IEMbase's analyte and treatment rows as enrichment prompts for future MADD diagnostic-marker and management review.