Biochemical Genetics

, Volume 4, Issue 6, pp 719–726 | Cite as

Uroporphyrinogen III cosynthetase in asymptomatic carriers of congenital erythropoietic porphyria

  • Giovanni Romeo
  • Bertis L. Glenn
  • Ephraim Y. Levin


Mean activity of the enzyme uroporphyrinogen III cosynthetase in hemolysates from five asymptomatic carriers of bovine erythropoietic porphyria was intermediate to the means of the activities in normal controls and affected animals. Similarly, mean cosynthetase activity in hemolysates from eight presumed carriers of human congenital erythropoietic porphyria was lower than the mean for 38 nonporphyric individuals and higher than the activity in hemolysates from patients. These results are consistent with the known autosomal recessive mode of inheritance of the disorder in cattle and the presumed autosomal recessive inheritance in man. The activity of cosynthetase is higher in young red cells than in older ones, which explains the relatively high enzyme activities in blood from human patients with nonporphyric hemolytic disorders accompanied by reticulocytosis. It also explains why cosynthetase activity is higher in newborn porphyric calves than in older porphyric animals, because the former have a period of accelerated erythropoiesis and a high percentage of very young red cells in the circulation.


Enzyme Activity Normal Control Human Patient High Enzyme Porphyria 
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Copyright information

© Plenum Publishing Corporation 1970

Authors and Affiliations

  • Giovanni Romeo
    • 1
  • Bertis L. Glenn
    • 2
  • Ephraim Y. Levin
    • 1
  1. 1.Department of PediatricsThe Johns Hopkins University School of MedicineBaltimore
  2. 2.Oklahoma State University College of Veterinary MedicineStillwater

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