ANIMAL-MODELS OF HUMAN-DISEASE .6. COMPARISON OF HUMAN AND BOVINE PROTOPORPHYRIA

  • 1 January 1979
    • journal article
    • research article
    • Vol. 52  (5) , 449-454
Abstract
Protoporphyria (PP) is an inherited disorder of porphyrin metabolism in man in which there is excessive accumulation and excretion of protoporphyrin. A similar disorder was recently described in cattle. The clinical, biochemical and genetic features of bovine and human PP were compared. Human and bovine PP are characterized by photosensitivity and elevation of erythrocyte and fecal protoporphyrin levels. In both disorders, a deficiency of heme synthase activity is present in all tissues examined. The diseases differ clinically in that hepatobiliary disease was found thus far only in human PP. They also have different inheritance patterns. Human PP is an autosomal dominant disease while initial studies strongly suggest that there is an autosomal recessive pattern of inheritance in bovine PP.