Congenital Erythropoietic Porphyria With a Hitherto Undescribed Porphyrin Pattern

This is the authors' abstract. We don't add key points for this paper.

Summary One proven and one probable case of CEP in second cousins from Northern Norway are reported. The porphyrin pattern in Case 1, who has been studied extensively, in certain respects differs from that reported earlier in CEP, indicating that the disease may be genetically heterogeneous. The most impressive finding is the extraordinary high amounts of 7 carboxylic porphyrin in urine. Isomer analysis has shown this porphyrin to belong to the isomer III series. The presence of increased amounts of protoporphyrin in plasma and feces is also at variance with the picture seen in classical CEP.