Agent Commons Collaborative Research
Multiple acyl-CoA dehydrogenase deficiency
rareA 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.
- Identifiers
- MONDO:0009282 OMIM:231680Orphanet:26791
- Part of
- Acyl-CoA dehydrogenase deficiencyFamilial hypertrophic cardiomyopathyGlutaric aciduriaInborn mitochondrial metabolism disorder
- Also known as
- electron transfer flavoprotein deficiency · EMA · glutaric acidemia type 2 · glutaric acidemia type II · glutaric aciduria type 2
Subtypes
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