| Literature DB >> 23972786 |
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.Entities:
Keywords: Ammonia; Hyperammonemia; Inborn error of metabolism; Incidence; Newborn screening; Urea cycle
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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