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The incidence of urea cycle disorders
Marshall L Summar1, Stefan Koelker, Debra Freedenberg
1Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Ave. NW, Washington DC 20008, USA. msummar@childrensnational.org
Molecular Genetics and Metabolism
|August 27, 2013
Summary
The incidence of urea cycle disorders (UCDs) in the United States is 1 in 35,000 births. This research estimates approximately 113 new UCD cases annually across all age groups.
Area of Science:
- Medical Genetics
- Metabolic Disorders
- Newborn Screening
Background:
- Urea cycle disorders (UCDs) are a group of genetic conditions affecting metabolism.
- Current newborn screening in the US identifies specific UCDs like argininosuccinic synthetase and lyase deficiency.
Purpose of the Study:
- To determine the incidence of urea cycle disorders in the United States.
- To provide updated epidemiological data for UCDs.
Main Methods:
- Analysis of newborn screening data from over 6 million births in the US.
- Inclusion of data from large US and European longitudinal registries.
Main Results:
- The predicted incidence of UCDs in the United States is 1 patient per 35,000 births.
- This equates to an estimated 113 new UCD patients per year across all age groups.
Conclusions:
- Urea cycle disorders are relatively rare but require ongoing surveillance.
- Accurate incidence data are crucial for resource allocation and patient care planning for UCDs.
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