PRENATAL-DIAGNOSIS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY UTILIZING FETAL LIVER-BIOPSY
- 1 January 1984
- journal article
- research article
- Vol. 36 (2) , 320-328
Abstract
The prenatal diagnosis of ornithine transcarbamylase deficiency (OTCD) was made by using radioactive microassays for ornithine transcarbamylase (OTC) and.sbd.as an internal control.sbd.carbamyl phosphate synthetase (CPS I) in [human] liver biopsy material from two 19-wk-old at-risk fetuses. In each case, no OTC activity could be detected, while CPS I activity was normal. Control fetuses of 17-21 wk gestation had OTC activities in the range of 10.7-19.4 .mu.mol/mg protein per h. The prenatal results were confirmed post abortum by the radiochemical assays and by an enzyme-specific cytochemical staining method.This publication has 22 references indexed in Scilit:
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