title: The incidence of urea cycle disorders.
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.
authors: Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Ave. NW, Washington DC 20008, USA. msummar@childrensnational.org
authors: Marshall L
authors: ML
authors: Summar
authors: Stefan
authors: S
authors: Koelker
authors: Debra
authors: D
authors: Freedenberg
authors: Cynthia
authors: C
authors: Le Mons
authors: Johannes
authors: J
authors: Haberle
authors: Hye-Seung
authors: HS
authors: Lee
authors: Brian
authors: B
authors: Kirmse
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology; D001123:Argininosuccinate Lyase / Q000235:genetics*; D001124:Argininosuccinate Synthase / Q000172:deficiency / Q000235:genetics*; D056807:Argininosuccinic Aciduria; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D014481:United States / Q000453:epidemiology; D056806:Urea Cycle Disorders, Inborn / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology
chemical_list: D001123:Argininosuccinate Lyase; D001124:Argininosuccinate Synthase
keywords: Ammonia; Hyperammonemia; Inborn error of metabolism; Incidence; Newborn screening; Urea cycle
references: Mol Genet Metab. 2010;100 Suppl 1:S97-105
references: 20188616
references: Adv Exp Med Biol. 1982;153:9-18
references: 6819767