Summary
Amniotic fluid porphyrins, biosynthesis of porphyrins by amniotic cells, and uroporphyrinogen III cosynthetase were studied after the 17th week of a pregnancy at risk for congenital erythropoietic porphyria (CEP)1. Only coproporphyrin was found in amniotic fluid. A diagnosis of CEP was ruled out by the demonstration of normal cosynthetase activity; biosynthesis of porphyrins was identical, not only in the propositus and in control amniotic cells, but also in patients with CEP and in control skin fibroblasts.
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Deybach, J.C., Grandchamp, B., Grelier, M. et al. Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum Genet 53, 217–221 (1980). https://doi.org/10.1007/BF00273499
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DOI: https://doi.org/10.1007/BF00273499