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).
Engelsk definition
An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Svenska synonymer
ETFDH-brist — Multipel acyl-CoA-dehydrogenasbrist — MAD-brist — ETFB-brist — ETFA-brist
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