title: Protoporphyrinogen oxidase in porphyria variegata. A report of the findings in 7 families.
abstract: Protoporphyrinogen oxidase (PPO) activity was determined in 7 families with porphyria variegata (PV). Enzyme activity was reduced by 50% in 8 propositi and in 8 out of 16 prepubertal children. These results are in keeping with the concept that PV is inherited as an autosomal dominant disease. Enzyme activity was also reduced in the fathers of 2 of the propositi, who were suspected on family history of carrying the PV trait, but who had no clinical manifestations. Determination of PPO activity provides a reliable means of identifying PV and of identifying offspring who could, at puberty, become PV patients.
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005243:Feces / Q000032:analysis; D005260:Female; D005420:Flavoproteins; D006801:Humans; D007962:Leukocytes / Q000032:analysis; D008297:Male; D024101:Mitochondrial Proteins; D010088:Oxidoreductases / Q000097:blood*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics; D011166:Porphyrins / Q000032:analysis; D050768:Protoporphyrinogen Oxidase
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011166:Porphyrins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase