Multiple acyl-CoA dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency
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.
Also known as electron transfer flavoprotein deficiency, glutaric acidemia type 2, glutaric acidemia type II, glutaric aciduria type 2, Glutaric Aciduria Type II, glutaric aciduria, type 2, MAD deficiency, MADD, multiple acyl Coenzyme A dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency — per MONDO