Chronic granulomatous disease due to granulocytes with abnormal NADPH oxidase activity and deficient cytochrome-b.
A patient with an X-linked genetic disease resembling chronic granulomatous disease (CGD) but differing in several aspects from previously studied cases is described. The oxidase enzyme of the patient's granulocytes was normally activated, but had reduced activity as shown by an increased Michaelis constant and decreased maximum velocity of NADPH-dependent superoxide production. Cytochrome-b was undetectable in dithionite difference spectra. This CGD-like disease further implicates cytochrome-b as an important component of the microbicidal NADPH oxidase system and provides insight into its role in the enzyme complex.
D000293:Adolescent; D003573:Cytochrome b Group / Q000172:deficiency*; D006098:Granulocytes / Q000201:enzymology*; D006105:Granulomatous Disease, Chronic / Q000097:blood*; D006801:Humans; D008297:Male; D008564:Membrane Potentials; D009247:NADH, NADPH Oxidoreductases / Q000097:blood*; D009252:NADPH Dehydrogenase / Q000097:blood*; D009580:Nitroblue Tetrazolium; D010101:Oxygen Consumption; D013481:Superoxides / Q000096:biosynthesis
D003573:Cytochrome b Group; D013481:Superoxides; D009580:Nitroblue Tetrazolium; D009247:NADH, NADPH Oxidoreductases; D009252:NADPH Dehydrogenase