Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.
The prenatal diagnosis of ornithine transcarbamylase deficiency (OTCD) was made by using radioactive microassays for ornithine transcarbamylase (OTC) and--as an internal control--carbamyl phosphate synthetase (CPS I) in liver biopsy material from two 19-week-old at-risk fetuses. In each case, no OTC activity could be detected, while CPS I activity was normal. Control fetuses of 17-21 weeks gestation had OTC activities in the range of 10.7 to 19.4 mumol/mg protein per hr. The prenatal results were confirmed post abortum by the radiochemical assays and by an enzyme-specific cytochemical staining method.
D000025:Abortion, Eugenic; D000328:Adult; D001706:Biopsy; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000378:metabolism; D005260:Female; D005333:Fetus; D006651:Histocytochemistry; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology*; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012306:Risk
D002222:Carbamoyl-Phosphate Synthase (Ammonia)