Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening.
Klin Lab Diagn
; 67(4): 204-206, 2022 Apr 17.
Article
em En
| MEDLINE
| ID: mdl-35575392
ABSTRACT
Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene. Neonatal screening for Fabry disease in males is feasible by measurement of α-galactosidase A activity in DBS using either the mass spectrometric or fluorigenic substrate. The aim of the study to assess the possibility of introducing the compared methods into the practice of neonatal screening. In the both assays performed a statistically significant difference of the enzyme activity between affected individuals and controls is reported. The slight modification of the fluorimetric method by centrifugation of a 96-well microplate before measurement could improve signal to noise ratio.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article