title: Hereditary myeloperoxidase deficiency: study of 12 cases.
abstract: 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.
mesh_terms: 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
chemical_list: D001391:Azo Compounds; D009281:Naphthalenes; D009580:Nitroblue Tetrazolium; C016118:Sudan Black B; D010544:Peroxidases; D009195:Peroxidase