Hereditary myeloperoxidase deficiency: study of 12 cases.
12 cases of hereditary myeloperoxidase (MPO) deficiency are reported. Histochemical stainings, lysosomal enzyme determinations, electron microscopic study of MPO and granulocytic function were performed. Family studies on 2 generations were carried out in 5 patients and histochemical stainings and biochemical lysosomal enzyme determinations were done. MPO deficiency was found to follow autosomal recessive inheritance and only rarely to have clinical effects.
D001391:Azo Compounds / Q000032:analysis; D002177:Candidiasis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009281:Naphthalenes; D009504:Neutrophils / Q000201:enzymology / Q000648:ultrastructure; D009580:Nitroblue Tetrazolium / Q000032:analysis; D009195:Peroxidase / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D010544:Peroxidases / Q000172:deficiency*; D010587:Phagocytosis
D001391:Azo Compounds; D009281:Naphthalenes; D009580:Nitroblue Tetrazolium; C016118:Sudan Black B; D010544:Peroxidases; D009195:Peroxidase