Disease association ontology term - MONDO:0009282 - multiple acyl-CoA dehydrogenase deficiency
Term summary
- ID
- MONDO:0009282
- Name
- multiple acyl-CoA dehydrogenase deficiency
- Ontology or CV name
- Disease association
- 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.
