Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Hong, X; Kumar, AB; Daiker, J; Yi, F; Sadilek, M; De Mattia, F; Fumagalli, F; Calbi, V; Damiano, R; Della Bona, M; la Marca, G; Vanderver, AL; Waldman, AT; Adang, L; Sherbini, O; Woidill, S; Suhr, T; Kurtzberg, J; Beltran-Quintero, ML; Escolar, M; Aiuti, A; Finglas, A; Olsen, A; Gelb, MH

Published Date

  • May 5, 2020

Published In

Volume / Issue

  • 92 / 9

Start / End Page

  • 6341 - 6348

PubMed ID

  • 31922725

Pubmed Central ID

  • PMC7203001

Electronic International Standard Serial Number (EISSN)

  • 1520-6882

Digital Object Identifier (DOI)

  • 10.1021/acs.analchem.9b05274


  • eng

Conference Location

  • United States