The incidence of urea cycle disorders
Marshall L Summar, 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/, Marshall L Summar, 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/
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.
© 2013.
Source: PubMed