Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening.

Autor: Herbst ZM; GelbChem, LLC, Seattle, WA 98195, USA; Department of Chemistry, University of Washington, Seattle, WA 98195, USA., Hold S; ARCHIMED Life Science GmbH, Leberstraße 20, 1110 Vienna, Austria., Gelb MH; GelbChem, LLC, Seattle, WA 98195, USA; Department of Chemistry, University of Washington, Seattle, WA 98195, USA; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA., Khaledi H; GelbChem, LLC, Seattle, WA 98195, USA. Electronic address: hamid@gelbchem.com.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108517. Date of Electronic Publication: 2024 Jun 19.
DOI: 10.1016/j.ymgme.2024.108517
Abstrakt: GM2 gangliosidosis is a group of rare lysosomal storage disorders (LSDs) including Tay-Sachs disease (TSD) and Sandhoff disease (SD), caused by deficiency in activity of either β-hexosaminidase A (HexA) or both β-hexosaminidase A and β-hexosaminidase B (HexB). Methods for screening and diagnosis of TSD and SD include measurement and comparison of the activity of these two enzymes. Here we report a novel method for duplex screening of dried blood spots (DBS) for TSD and SD by liquid chromatography-tandem mass spectrometry (LC-MS/MS). The method requires incubation of a single 3 mm DBS punch with the assay cocktail followed by the injection into the LC-MS/MS. The performance of the method was evaluated by comparing the confirmed TSD and SD patient DBS to random healthy newborn DBS which showed easy discrimination between the three cohorts. The method is multiplexable with other LSD MS/MS enzyme assays which is critical to the continued expansion of the NBS panels.
Competing Interests: Declaration of competing interest None.
(Copyright © 2024. Published by Elsevier Inc.)
Databáze: MEDLINE
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