Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk.
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). 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 porpositus and in control amniotic cells, but also in patients with CEP and in control skin fibroblasts.
D000653:Amniotic Fluid / Q000166:cytology / Q000378:metabolism; D003306:Coproporphyrins / Q000378:metabolism; D004920:Erythropoiesis; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008722:Methods; D010787:Photosensitivity Disorders / Q000151:congenital* / Q000175:diagnosis; D011164:Porphyrias / Q000151:congenital* / Q000175:diagnosis; D011166:Porphyrins / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D013577:Syndrome; D014576:Uroporphyrinogen III Synthetase / Q000378:metabolism
D003306:Coproporphyrins; D011166:Porphyrins; D014576:Uroporphyrinogen III Synthetase