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

共 50 条

[21] NEWBORN SCREENING FOR HEMOGLOBIN DISORDERS
Hoppe, Carolyn C.
HEMOGLOBIN, 2011, 35 (5-6) : 556 - 564
[22] Newborn hearing screening: Recommendations and rationale
Berg, AO
AMERICAN JOURNAL OF NURSING, 2002, 102 (11) : 83 - +
[23] Newborn hearing screening: Recommendations and rationale
Berg, AO
AMERICAN FAMILY PHYSICIAN, 2001, 64 (12) : 1995 - 1999
[24] Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle
Longo, Nicola
ANNALS OF NUTRITION AND METABOLISM, 2016, 68 : 5 - 9
[25] Newborn screening: Current status
Arn, Pamela H.
HEALTH AFFAIRS, 2007, 26 (02) : 559 - 566
[26] THE CURRENT STATUS OF NEWBORN SCREENING
LEVY, HL
MITCHELL, ML
HOSPITAL PRACTICE, 1982, 17 (07): : 89 - 97
[27] Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening
Barends, M.
Pitt, J.
Morrissy, S.
Tzanakos, N.
Boneh, A.
MOLECULAR GENETICS AND METABOLISM, 2014, 113 (1-2) : 46 - 52
[28] CLINICAL AND BIOCHEMICAL CHARACTERISTICS OF PATIENTS WITH ORGANIC ACIDAEMIAS AND UREA CYCLE DISORDERS IDENTIFIED THROUGH NEWBORN SCREENING
Barends, M. E.
Pitt, J. J.
Tzanakos, N.
Boneh, A.
JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S5 - S5
[29] Newborn Screening: Gaps in the Evidence
Wilcken, Bridget
SCIENCE, 2013, 342 (6155) : 197 - 198
[30] Newborn screening for genetic disorders: Current status and prospects for the future
Ding Si
Han Lianshu
儿科学研究（英文）, 2022, 06 (04)

← 1 2 3 4 5 →