title: The inherited enzymatic defect in porphyria variegata.
abstract: Protoporphyrinogen oxidase activity and ferrochelatase activity have been measured in blood lymphocytes from patients with prophyria variegata, and from some members of the family of one patient; the mean activity of protoporphyrinogen oxidase from patients was about 50% of that in lymphocytes from normal subjects; similar results were obtained from asymptomatic carriers in two generations of the patient's family. This finding confirms that a protoporphyrinogen oxidase decreased activity reflects the primary genetic defect in Porphyria Variegata. Data of ferrochelatase activity have been found usually in the normal range and these results are discussed.
mesh_terms: D005260:Female; D005294:Ferrochelatase / Q000378:metabolism*; D005420:Flavoproteins; D006801:Humans; D008190:Lyases / Q000378:metabolism*; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D024101:Mitochondrial Proteins; D010088:Oxidoreductases / Q000378:metabolism*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase; D011524:Protoporphyrins / Q000378:metabolism
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011524:Protoporphyrins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase; D008190:Lyases; D005294:Ferrochelatase