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

Publication ,  Journal Article
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 ...
Published in: Anal Chem
May 5, 2020

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.

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Published In

Anal Chem

DOI

EISSN

1520-6882

Publication Date

May 5, 2020

Volume

92

Issue

9

Start / End Page

6341 / 6348

Location

United States

Related Subject Headings

  • Tandem Mass Spectrometry
  • Sulfoglycosphingolipids
  • Multiple Sulfatase Deficiency Disease
  • Molecular Structure
  • Leukodystrophy, Metachromatic
  • Leukocytes
  • Humans
  • Dried Blood Spot Testing
  • Chromatography, Liquid
  • Cerebroside-Sulfatase
 

Citation

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Hong, X., Kumar, A. B., Daiker, J., Yi, F., Sadilek, M., De Mattia, F., … Gelb, M. H. (2020). Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry. Anal Chem, 92(9), 6341–6348. https://doi.org/10.1021/acs.analchem.9b05274
Hong, Xinying, Arun Babu Kumar, Jessica Daiker, Fan Yi, Martin Sadilek, Fabiola De Mattia, Francesca Fumagalli, et al. “Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.Anal Chem 92, no. 9 (May 5, 2020): 6341–48. https://doi.org/10.1021/acs.analchem.9b05274.
Hong X, Kumar AB, Daiker J, Yi F, Sadilek M, De Mattia F, et al. Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry. Anal Chem. 2020 May 5;92(9):6341–8.
Hong, Xinying, et al. “Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.Anal Chem, vol. 92, no. 9, May 2020, pp. 6341–48. Pubmed, doi:10.1021/acs.analchem.9b05274.
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. Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry. Anal Chem. 2020 May 5;92(9):6341–6348.
Journal cover image

Published In

Anal Chem

DOI

EISSN

1520-6882

Publication Date

May 5, 2020

Volume

92

Issue

9

Start / End Page

6341 / 6348

Location

United States

Related Subject Headings

  • Tandem Mass Spectrometry
  • Sulfoglycosphingolipids
  • Multiple Sulfatase Deficiency Disease
  • Molecular Structure
  • Leukodystrophy, Metachromatic
  • Leukocytes
  • Humans
  • Dried Blood Spot Testing
  • Chromatography, Liquid
  • Cerebroside-Sulfatase