Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Journal
Analytical chemistry
ISSN: 1520-6882
Titre abrégé: Anal Chem
Pays: United States
ID NLM: 0370536
Informations de publication
Date de publication:
05 05 2020
05 05 2020
Historique:
pubmed:
11
1
2020
medline:
11
2
2021
entrez:
11
1
2020
Statut:
ppublish
Résumé
Liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays were developed to measure arylsulfatase A (ARSA) activity in leukocytes and dried blood spots (DBS) using deuterated natural sulfatide substrate. These new assays were highly specific and sensitive. Patients with metachromatic leukodystrophy (MLD) and multiple sulfatase deficiency (MSD) displayed a clear deficit in the enzymatic activity and could be completely distinguished from normal controls. The leukocyte assay reported here will be important for diagnosing MLD and MSD patients and for monitoring the efficacy of therapeutic treatments. ARSA activity was measured in DBS for the first time without an antibody. This new ARSA DBS assay can serve as a second-tier test following the sulfatide measurement in DBS for newborn screening of MLD. This leads to an elimination of most of the false positives identified by the sulfatide assay.
Identifiants
pubmed: 31922725
doi: 10.1021/acs.analchem.9b05274
pmc: PMC7203001
mid: NIHMS1556771
doi:
Substances chimiques
Sulfoglycosphingolipids
0
Cerebroside-Sulfatase
EC 3.1.6.8
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
6341-6348Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK067859
Pays : United States
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