multiple acyl-CoA dehydrogenase deficiency
Findings
No curated finding names multiple acyl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
Definition from the Mondo Disease Ontology (MONDO:0009282), read 2026-09-29. CC BY 4.0.
- Onset and course
- Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
65 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated urine suberic acid levelHPOHP:0033213
- 3 of 4 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Exercise-induced muscle fatigueHPOHP:0009020
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- Frequent (30% to 79% of cases)
- Proximal muscle weakness
Show the remaining 53
- Abnormality of the skeletal systemHPOHP:0000924
- Occasional (5% to 29% of cases)
- AreflexiaHPOHP:0001284
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Occasional (5% to 29% of cases)
- Decreased circulating carnitine concentrationHPOHP:0003234
- Occasional (5% to 29% of cases)
- Decreased liver functionHPOHP:0001410
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ETFAHGNC:3481
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ETFBHGNC:3482
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ETFDHHGNC:3483
- Definitive · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
9 names
Resolves to: multiple acyl-CoA dehydrogenase deficiency
- Also called
- electron transfer flavoprotein deficiencyglutaric acidemia type 2glutaric acidemia type IIglutaric aciduria type 2Glutaric Aciduria Type IIglutaric aciduria, type 2MAD deficiencyMADDmultiple acyl Coenzyme A dehydrogenase deficiency