Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Multipel acylkoenzym A-dehydrogenasbrist

Svensk definition

En autosomalt recessiv störning i fettsyraoxidationen och i katabolismen av grenade aminosyror, lysin och kolin, beroende på defekter i någon underenhet till elektrontransportflavoprotein eller dess dehydrogenas, elektrontransportflavoprotein-ubikinonoxidoreduktas (EC 1.5.5.1).

Svenska synonymer

ETFDH-brist Multipel acyl-CoA-dehydrogenasbrist

Engelska synonymer

Ethylmalonic-Adipic Aciduria Aciduria, Ethylmalonic-Adipic Acidurias, Ethylmalonic-Adipic Ethylmalonic Adipic Aciduria Ethylmalonic-Adipic Acidurias Ethylmalonic-Adipicaciduria Ethylmalonic Adipicaciduria Glutaric Acidemia Type II Glutaric Acidemia, Type 2 Glutaric Aciduria II Glutaric Aciduria Type II Glutaric Aciduria, Type 2 MADD (Multiple Acyl-CoA Dehydrogenase Deficiency) MADD (Multiple Acyl CoA Dehydrogenase Deficiency) MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency) Multiple Acyl-CoA Dehydrogenase Deficiency Multiple Acyl CoA Dehydrogenase Deficiency Multiple FAD Dehydrogenase Deficiency Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Glutaric Aciduria IIC ETFDH Deficiency ETFDH Deficiencies Electron Transfer Flavoprotein Dehydrogenase Deficiency Glutaric Aciduria IIA ETFA Deficiency ETFA Deficiencies Electron Transfer Flavoprotein Alpha Subunit Deficiency Glutaric Aciduria IIB Electron Transfer Flavoprotein Beta Subunit Deficiency ETFB Deficiency ETFB Deficiencies