| Literature DB >> 31922725 |
Xinying Hong1, Arun Babu Kumar1, Jessica Daiker1, Fan Yi1, Martin Sadilek1, Fabiola De Mattia2, Francesca Fumagalli2,3, Valeria Calbi2,3, Roberta Damiano4, Maria Della Bona4, Giancarlo la Marca4,5, Adeline L Vanderver6,7, Amy T Waldman6,7, Laura Adang6,7, Omar Sherbini6, Sarah Woidill6, Teryn Suhr8, Joanne Kurtzberg9, Maria L Beltran-Quintero10, Maria Escolar10, Alessandro Aiuti2, Alan Finglas11, Amber Olsen12, Michael H Gelb1,13.
Abstract
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.Entities:
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Year: 2020 PMID： 31922725 PMCID： PMC7203001 DOI： 10.1021/acs.analchem.9b05274
Source DB: PubMed Journal: Anal Chem ISSN： 0003-2700 Impact factor: 6.986