Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis.


A 51 -yr-old white male with congenital erythropoietic porphyria (Gunther’s Disease) is described. The disease was first manifested in infancy and mutilating cutaneous photosensitivity eventually developed. The source of excess porphyrin production was a markedly dyserythropoietic bone marrow. The dyserythropoietic changes were most marked in the orthochromic and polychromatophilic normoblasts. and these cells demonstrated a red-orange nuclear fluorescence. The morphological features of the dyserythropoietic cells. studied with light and electron microscopy. were identical to those found in congenital dyserythropoietic anemia type I and are similar to those described in other patients with congenital erythropoietic porphyria. The red-orange nuclear fluorescence was the only feature not usually associated with congenital dyserythropoietic anemia type I. Massive porphyrinuria was present, but the pattern of porphyrin excretion was atypical for congenital erythropoietic porphyria. Hepta carboxyl (7COOH) porphyrin was the major urine porphyrin. and there was also a large amount of uroporphyrin present. Both

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@article{Kushner1982CongenitalEP, title={Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis.}, author={J P Kushner and Neville Roy Pimstone and C R Kjeldsberg and Marsha A Pryor and A Huntley}, journal={Blood}, year={1982}, volume={59 4}, pages={725-37} }