Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening

被引：28

作者：

Merritt, J. Lawrence, II ^{[1
,2
]}

Brody, Linnea L. ^{[2
]}

Pino, Gisele ^{[3
]}

Rinaldo, Piero ^{[3
]}

机构：

[1] Univ Washington, Pediat, Seattle, WA 98195 USA

[2] Seattle Childrens Res Inst, Seattle, WA USA

[3] Mayo Clin, Coll Med, Biochem Genet Lab, Rochester, MN USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2018年 / 124卷 / 02期

基金：

美国国家卫生研究院;

关键词：

Newborn screening; Ornithine transcarbamylase deficiency; Urea cycle disorder; False positives; Region; 4; Stork; TANDEM MASS-SPECTROMETRY; INBORN-ERRORS; METABOLISM; DIAGNOSIS; OUTCOMES; SYSTEM;

D O I：

10.1016/j.ymgme.2018.04.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Current newborn screening (NBS) for urea cycle disorders (UCD) is incomplete as only distal UCDs are included in most NBS programs by measuring elevated amino acid concentrations. NBS for the proximal UCDs involves the detection in NBS spots of low citrulline values, a finding which is often overlooked because it is considered to be inadequate. We retrospectively analyzed NBS blood spots from known UCD patients comparing the utility of the Region 4 Stork (R4S) interpretive tools to conventional cutoff based interpretation. This study shows the utility of R4S tools in detecting all UCDs, and provides evidence to support the nomination to add proximal UCDs to the recommended uniform screening panel.

引用

页码：109 / 113

页数：5

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