The incidence of urea cycle disorders

被引：215

作者：

Summar, Marshall L. ^{[1
]}

Koelker, Stefan ^{[2
]}

Freedenberg, Debra ^{[3
]}

Le Mons, Cynthia ^{[4
]}

Haberle, Johannes ^{[5
]}

Lee, Hye-Seung ^{[6
]}

Kirmse, Brian ^{[1
]}

机构：

[1] Childrens Natl Med Ctr, Div Genet & Metab, Washington, DC 20008 USA

[2] Univ Childrens Hosp, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg, Germany

[3] Texas Dept State Hlth Serv, Austin, TX 78756 USA

[4] Natl Urea Cycle Disorders Fdn, Pasadena, CA 91105 USA

[5] Univ Childrens Hosp, Div Metab, CH-8032 Zurich, Switzerland

[6] Univ S Florida, Data Management & Coordinating Ctr, Tampa, FL USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2013年 / 110卷 / 1-2期

关键词：

Incidence; Urea cycle; Inborn error of metabolism; Newborn screening; Hyperammonemia; Ammonia;

D O I：

10.1016/j.ymgme.2013.07.008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 6 million 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. (C) 2013 Published by Elsevier Inc.

引用

页码：179 / 180

页数：2

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