Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1984 Mar;36(2):320-8.

Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy

W Holzgreve, M S Golbus
Case Reports

Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy

W Holzgreve et al. Am J Hum Genet. 1984 Mar.

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.

PubMed Disclaimer

References

    1. J Histochem Cytochem. 1968 Mar;16(3):172-80 - PubMed
    1. Acta Paediatr Scand. 1968 Mar;57(2):121-4 - PubMed
    1. Arch Dis Child. 1969 Apr;44(234):152-61 - PubMed
    1. Pediatrics. 1971 Oct;48(4):595-600 - PubMed
    1. Anal Biochem. 1971 Aug;42(2):324-37 - PubMed

Publication types

Substances