Literature DB >> 23972786

The incidence of urea cycle disorders.

Marshall L Summar1, Stefan Koelker, Debra Freedenberg, Cynthia Le Mons, Johannes Haberle, Hye-Seung Lee, Brian Kirmse.   

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.
© 2013.

Entities:  

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

Mesh:

Substances:

Year:  2013        PMID: 23972786      PMCID: PMC4364413          DOI: 10.1016/j.ymgme.2013.07.008

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  2 in total

1.  Newborn screening for urea cycle disorders.

Authors:  E W Naylor
Journal:  Adv Exp Med Biol       Date:  1982       Impact factor: 2.622

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Journal:  Mol Genet Metab       Date:  2010-02-10       Impact factor: 4.797

  2 in total
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8.  Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

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