Analytical chemistry · 2020
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
СтатьяПоддержка NIH: внешняя программаНазвание и аннотация: Перевод пока не подготовлен
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Hong Xinying, Kumar Arun Babu, Daiker Jessica, Yi Fan, Sadilek Martin, De Mattia Fabiola, Fumagalli Francesca, Calbi Valeria, Damiano Roberta, Della Bona Maria, la Marca Giancarlo, Vanderver Adeline L, Waldman Amy T, Adang Laura, Sherbini Omar, Woidill Sarah, Suhr Teryn, Kurtzberg Joanne, Beltran-Quintero Maria L, Escolar Maria, Aiuti Alessandro, Finglas Alan, Olsen Amber, Gelb Michael H
Аннотация
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.