Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk
- 1 February 1980
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 53 (2) , 217-221
- https://doi.org/10.1007/bf00273499
Abstract
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.Keywords
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