The inherited enzymatic defect in porphyria variegata
- 1 October 1981
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 58 (4) , 425-428
- https://doi.org/10.1007/bf00282829
Abstract
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.This publication has 21 references indexed in Scilit:
- The Enzymatic Defect in Variegate PorphyriaNew England Journal of Medicine, 1980
- A fluorometric assay for measurement of protoporphyrinogen oxidase activity in mammalian tissueClinica Chimica Acta; International Journal of Clinical Chemistry, 1980
- Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegataAmerican Journal of Hematology, 1979
- ENZYME ABNORMALITIES IN THE PORPHYRIASThe Lancet, 1977
- Reduced Ferrochelatase Activity: a Defect Common to Porphyria Variegata and ProtoporphyriaBritish Journal of Haematology, 1977
- Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyriaBiochemical and Biophysical Research Communications, 1977
- THE PRIMARY ENZYME DEFECT IN HEREDITARY COPROPORPHYRIAThe Lancet, 1976
- An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.Journal of Clinical Investigation, 1976
- Clinical PhysicsScandinavian Journal of Clinical and Laboratory Investigation, 1968
- Determination of Porphyrins in Biological MaterialsPublished by Wiley ,1960