Leukocyte glutathione peroxidase deficiency in a male patient with chronic granulomatous disease.
A male child with chronic granulomatous disease is described in whom glutathione peroxidase deficiency of leukocytes was identified. Stability and activity of G-6-PD and activity of NADPH oxidase were normal. The leukocytes of the parents showed intermediate activities of glutathione peroxidase, suggesting the possibility of autosomal recessive inheritance.
D005808:Genes, Recessive; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D006105:Granulomatous Disease, Chronic / Q000201:enzymology* / Q000235:genetics; D006579:Heterozygote; D006600:Hexosephosphates / Q000378:metabolism; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D009247:NADH, NADPH Oxidoreductases / Q000097:blood; D010544:Peroxidases / Q000172:deficiency*; D010585:Phagocyte Bactericidal Dysfunction / Q000201:enzymology*; D010734:Phosphogluconate Dehydrogenase / Q000097:blood
D006600:Hexosephosphates; D010734:Phosphogluconate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D010544:Peroxidases; D009247:NADH, NADPH Oxidoreductases