Abstract
Alboy with the typical clinical picture of CEP showed an unusual porphyrin pattern. In addition to the expected very high urinary excretion of uroporphyrin I and high no. of erythroblasts with nuclear fluorescence in bone marrow, he showed large amts. of uroporphyrin III and especially of a 7 carboxylic porphyrin of the ieomer III series in the urine. At 2 yrs of age the urine contained 11600 ug porphyrin per day, whereof 4330 μg uroporphyrin, 4330 μg 7 carboxylic porphyrin, 775 ug 6 carboxylic, 860 μg 5 carboxylic, 1270 μg coproporphyrin, and a small amt. of 3 carborylic porphyrin. Findings of increased amts. of protoporphyrin in plasma and feces are also at variance with the picture seen in classical CEP. These data indicate that we're dealing with a biochemically “new” type of CEP. Meticulous protection against light with wavelengths below 510 nm removed skin lesions and brought about an almost complete compensation of the hemolytic anemia. Under light protection the ratio porphyrinogen/porphyrin in urine was 80/HO;under incomplete light shielding 10/90. An important feature is thus the overproduction of porphyrinogen, which on light exposure in the skin is oxidized to porphyrin. Data seem to exclude that impaired activity of isomerase (uroporphyrinogen-III-cosynthetase) is the only or even the most important metabolic defect in this patient.
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Seip, M., Eriksen, L. CONGENITAL ERYTHROPOIETIC PORPHYRIA (CEP) WITH A HITHERTO UNDESCRIBED PORPHYRIN PATTERN. Pediatr Res 8, 140 (1974). https://doi.org/10.1203/00006450-197402000-00087
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DOI: https://doi.org/10.1203/00006450-197402000-00087