Format

Send to

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

The incidence of urea cycle disorders.

Author information

1
Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Ave. NW, Washington DC 20008, USA. msummar@childrensnational.org

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

PMID:
23972786
PMCID:
PMC4364413
DOI:
10.1016/j.ymgme.2013.07.008
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center