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

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 overloo...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2018-06, Vol.124 (2), p.109-113
Main Authors: Merritt, J. Lawrence, Brody, Linnea L., Pino, Gisele, Rinaldo, Piero
Format: Article
Language:English
Subjects:
Citrulline - blood
Dried Blood Spot Testing - methods
False positives
Female
Humans
Infant, Newborn
Male
Neonatal Screening - standards
Newborn screening
Ornithine transcarbamylase deficiency
Pilot Projects
Practice Guidelines as Topic - standards
Prospective Studies
Region 4 Stork
Retrospective Studies
Urea cycle disorder
Urea Cycle Disorders, Inborn - blood
Urea Cycle Disorders, Inborn - diagnosis
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2018.04.006