Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
Mol Genet Metab
; 121(1): 16-21, 2017 05.
Article
em En
| MEDLINE
| ID: mdl-28302345
ABSTRACT
OBJECTIVE:
To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDYDESIGN:
Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease. Screen-positive cases were confirmed using leukocyte enzymatic activity and DNA molecular analysis.RESULTS:
From July 2012 to April 2016, 20,018 patients were screened; 20 patients were confirmed to have an LSD phenotype (99.9 in 100,000 newborns). Final distributions include 11 Pompe disease, five Fabry disease, two MPS-I, and two Niemann-Pick type A/B patients. We did not find any Gaucher or Krabbe patients. A final frequency of 1 in 1001 LSD newborn phenotypes was established.DISCUSSION:
NBS is a major public health achievement that has decreased the morbidity and mortality of inborn errors of metabolism. The introduction of NBS for LSD presents new challenges. This is the first multiplex Latin-American study of six LSDs detected through NBS.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
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Doenças por Armazenamento dos Lisossomos
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Teste em Amostras de Sangue Seco
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
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Screening_studies
Limite:
Female
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Humans
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Male
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Newborn
País como assunto:
Mexico
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article