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
. 1982;5(1):37-40.
doi: 10.1007/BF01799752.

Carrier detection in ornithine transcarbamylase deficiency

E A Haan, D M Danks, A Grimes, N J Hoogenraad

Carrier detection in ornithine transcarbamylase deficiency

E A Haan et al. J Inherit Metab Dis. 1982.

Abstract

We have studied six known heterozygotes for ornithine transcarbamylase (McKusick 31125; OTC) deficiency. All had abnormal results when tested by measurement of urine orotic acid after protein loading. Duodenal mucosa OTC assay detected fewer of the known heterozygotes but was a useful supplementary test. Urine orotic acid excretion after protein loading is influenced by age and results from women being tested must be compared with those from controls of appropriate age.

PubMed Disclaimer

References

    1. Am J Clin Nutr. 1969 May;22(5):532-4 - PubMed
    1. J Pediatr. 1978 Jul;93(1):75-8 - PubMed
    1. Lancet. 1969 Jul 26;2(7613):170-4 - PubMed
    1. Pediatr Res. 1975 Nov;9(11):829-33 - PubMed
    1. Enzyme. 1974;18(1):103-13 - PubMed

LinkOut - more resources