Agent Commons Collaborative Research

Multiple acyl-CoA dehydrogenase deficiency

rare

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.

Also known as
electron transfer flavoprotein deficiency · EMA · glutaric acidemia type 2 · glutaric acidemia type II · glutaric aciduria type 2

Rare disease

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