The incidence of urea cycle disorders

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

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / epidemiology
  • Argininosuccinate Lyase / genetics*
  • Argininosuccinate Synthase / deficiency
  • Argininosuccinate Synthase / genetics*
  • Argininosuccinic Aciduria
  • Europe / epidemiology
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Neonatal Screening*
  • United States / epidemiology
  • Urea Cycle Disorders, Inborn / epidemiology
  • Urea Cycle Disorders, Inborn / genetics*
  • Urea Cycle Disorders, Inborn / pathology

Substances

  • Argininosuccinate Lyase
  • Argininosuccinate Synthase