/multiple acyl-CoA dehydrogenase deficiency

multiple acyl-CoA dehydrogenase deficiency

Rare Disease

MONDO:0009282

Also Known As

Glutaric Aciduria Type IIMAD deficiencyMADDelectron transfer flavoprotein deficiencyelectron transfer flavoprotein ubiquinone oxidoreductase deficiencyglutaric acidemia type 2glutaric acidemia type IIglutaric aciduria type 2glutaric aciduria, type 2multiple acyl Coenzyme A dehydrogenase deficiencymultiple acyl-CoA dehydrogenase deficiencyEtfa deficiencyEtfb deficiencyEtfdh deficiencyglutaric acidemia 2Aglutaric acidemia 2Bglutaric acidemia 2Cglutaric acidemia IIAglutaric acidemia IIBglutaric acidemia IICEMAGa 2ethylmalonic-Adipicaciduriaglutaric acidemia 2glutaric aciduria 2

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.