title: Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).
abstract: The clinical and biochemical phenotype of glutaric acidaemia type II (GAII) has led to the suggestion that the defect in the disorder affects electron transfer from primary FAD-containing dehydrogenases into the respiratory chain. Two proteins are involved in this process, i.e. electron transfer flavoprotein (ETF) and ETF dehydrogenase, an iron--sulphur flavoprotein with a distinctive EPR signal. Reliable catalytic assays for these proteins are not available, but both proteins have been purified and antisera against them prepared in rabbits. SDS-PAG electrophoresis of liver mitochondrial membranes from a GAII infant with congenital anomalies, locating ETF dehydrogenase with specific antiserum, showed no cross-reactive material. EPR of the same membranes showed a marked decrease in the ETF dehydrogenase signal. These results suggest that the defect in GAII in some patients is indeed in electron transport, and specifically in ETF dehydrogenase.
mesh_terms: D004579:Electron Transport; D044927:Electron-Transferring Flavoproteins; D044943:Fatty Acid Desaturases / Q000378:metabolism*; D005260:Female; D005420:Flavoproteins / Q000378:metabolism; D005977:Glutarates / Q000097:blood*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007506:Iron-Sulfur Proteins; D008297:Male; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D009097:Multienzyme Complexes; D010088:Oxidoreductases / Q000378:metabolism*; D000587:Oxidoreductases Acting on CH-NH Group Donors
chemical_list: D044927:Electron-Transferring Flavoproteins; D005420:Flavoproteins; D005977:Glutarates; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes; D010088:Oxidoreductases; D044943:Fatty Acid Desaturases; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C035736:glutaric acid