Brown amiotic fluid in congenital erythropoietic porphyria.
Brown amniotic fluid due to congenital erythropoietic porphyria has been observed at the 15th week of pregnancy in a fetus proved after abortion to have the disease. The color is produced by abnormal porphyrins resulting from a deficiency of uroporphyrin cosynthetase. The mother, a carrier of the autosomal recessive gene, has since delivered a normal infant whose amniotic fluid was unremarkable.
D000653:Amniotic Fluid; D003116:Color; D003937:Diagnosis, Differential; D005260:Female; D005313:Fetal Death / Q000175:diagnosis; D005315:Fetal Diseases / Q000175:diagnosis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011164:Porphyrias / Q000151:congenital* / Q000175:diagnosis; D011247:Pregnancy; D011248:Pregnancy Complications; D012871:Skin Diseases / Q000151:congenital*