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
. 2013 Sep-Oct;110(1-2):179-80.
doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18.

The incidence of urea cycle disorders

Marshall L Summar  1 , Stefan Koelker, Debra Freedenberg, Cynthia Le Mons, Johannes Haberle, Hye-Seung Lee, Brian Kirmse; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/
Affiliations

The incidence of urea cycle disorders

Marshall L Summar et al. Mol Genet Metab. 2013 Sep-Oct.

Abstract

A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase deficiency, are currently detected by newborn screening. We used newborn screening data on over 6million births and data from the large US and European longitudinal registries to determine how common these conditions are. The incidence for the United States is predicted to be 1 urea cycle disorder patient for every 35,000 births presenting about 113 new patients per year across all age groups.

Keywords: Ammonia; Hyperammonemia; Inborn error of metabolism; Incidence; Newborn screening; Urea cycle.

PubMed Disclaimer

References

    1. Naylor EW. Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982;153:9–18. - PubMed
    1. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Strieker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010;100(Suppl 1):S97–S105. - PMC - PubMed

Publication types

MeSH terms

Substances