The inherited enzymatic defect in porphyria variegata |
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Authors: | J. Ch. Deybach H. de Verneuil Y. Nordmann |
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Affiliation: | (1) Faculty of Medicine Xavier Bichat, Department of Biochemistry, Hôpital Louis Mourier, F-92701 Colombes, France |
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Abstract: | 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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