Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.
Mol Genet Metab
; 124(2): 109-113, 2018 06.
Article
em En
| MEDLINE
| ID: mdl-29703588
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
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Citrulina
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Guias de Prática Clínica como Assunto
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Distúrbios Congênitos do Ciclo da Ureia
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Teste em Amostras de Sangue Seco
Tipo de estudo:
Diagnostic_studies
/
Guideline
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Observational_studies
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Screening_studies
Limite:
Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2018
Tipo de documento:
Article