Summary
Protoporphyrinogen oxidase activity and ferrochelatase activity have been measured in blood lymphocytes from patients with porphyria 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.
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Deybach, J.C., de Verneuil, H. & Nordmann, Y. The inherited enzymatic defect in porphyria variegata. Hum Genet 58, 425–428 (1981). https://doi.org/10.1007/BF00282829
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DOI: https://doi.org/10.1007/BF00282829