Deficiency of NADPH oxidase activity in chronic granulomatous disease.
NADPH oxidase activity was examined in paired 27,000 x g granule fractions isolated from normal polymorphonuclear leukocytes from patients with chronic granulomatous disease. At 0.17 mM NADPH, the oxidase activity was not measurable in normal resting cells but was activated by phagocytosis. This activation was absent in CGD cells. At higher levels of NADPH, activity was present in cells from patients with CGD, although it was lower than normal, and no difference in activity was found between resting and phagocytizing cells. Granule fractions from phagocytizing normal cells exhibited higher than granule fractions from resting normal cells at all levels of NADPH. These results suggest that NADPH oxidase activity is defective in chronic granulomatous disease, and further that the defect is not the absence of the enzyme but rather a failure to activate it.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004789:Enzyme Activation; D005260:Female; D005808:Genes, Recessive; D006105:Granulomatous Disease, Chronic / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D009249:NADP; D009504:Neutrophils / Q000201:enzymology*; D009994:Osmolar Concentration; D010585:Phagocyte Bactericidal Dysfunction / Q000201:enzymology*; D010587:Phagocytosis; D012730:Sex Chromosomes
D009249:NADP; D009247:NADH, NADPH Oxidoreductases