The inherited enzymatic defect in porphyria variegata.
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.
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
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