Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.
1984
Abstract
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.
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