Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis.
Mol Genet Metab
; 127(3): 207-211, 2019 07.
Article
em En
| MEDLINE
| ID: mdl-31235216
ABSTRACT
Multiplex tandem mass spectrometry (MS/MS)-based enzyme activity assays for newborn screening (NBS) and diagnosis of lysosomal storage diseases (LSDs) in newborns, using dried blood spots (DBS) on newborn screening cards, have garnered much attention due to its sensitivity, high precision, and the capability to screen for an unprecedented number of diseases in a single assay. Herein we report the development of MS/MS-based enzyme assays for the diagnosis of α-mannosidosis and fucosidosis. These new protocols are able to distinguish untreated patients from random newborns, carriers and a post-bone marrow transplant patient. We have successfully multiplexed the α-mannosidosis assay with a multiplex MS/MS assay for the screening and diagnosis of other LSDs, namely Fabry, Pompe, MPS I, Gaucher, Niemann-Pick-A/B, and Krabbe diseases. Additionally, we also multiplexed the fucosidosis NBS assay with a 5-plex assay that tests for MPS-II, MPS-IIIB, MPS-IVA, MPS-VI and MPS-VII.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
/
Doenças por Armazenamento dos Lisossomos
/
Espectrometria de Massas em Tandem
/
Fucosidose
/
Alfa-Manosidose
Tipo de estudo:
Guideline
Limite:
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article