Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots.

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  • Author(s): Liu Y;Liu Y; Gelb MH; Gelb MH
  • Source:
    Molecular genetics and metabolism [Mol Genet Metab] 2024 Jan; Vol. 141 (1), pp. 108105. Date of Electronic Publication: 2023 Nov 30.
  • Publication Type:
    Journal Article
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
    • Publication Information:
      Original Publication: Orlando, FL : Academic Press, c1998-
    • Subject Terms:
      Mucopolysaccharidoses* ; Mucopolysaccharidosis VI*; Infant, Newborn ; Humans ; Tandem Mass Spectrometry/methods ; Chromatography, Liquid ; Sulfatases ; Dried Blood Spot Testing/methods
    • Abstract:
      Previously we developed a multiplex liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay using dried blood spots for all subtypes of mucopolysaccharidoses (MPS) except MPS-IIID. Here we show that the MPS-IIID enzyme N-acetylglucosamine-6-sulfatase (GNS) is inhibited in dried blood spot (DBS) extracts, but activity can be recovered if the extract is diluted to reduce the concentrations of endogenous inhibitors. The new GNS assay displays acceptable characteristics including linearity in product formation with incubation time and amount of enzyme, low variability, and ability to distinguish MPS-IIID-affected from healthy patients using DBS. The assay can be added to the LC-MS/MS multiplex panel for all MPS subtypes requiring ∼2 min per newborn for the LC-MS/MS run.
      Competing Interests: Declaration of Competing Interest None.
      (Copyright © 2023 Elsevier Inc. All rights reserved.)
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    • Grant Information:
      R01 DK067859 United States DK NIDDK NIH HHS
    • Contributed Indexing:
      Keywords: Mucopolysaccharidosis; Newborn screening; Sanfilippo; Syndrome type D; Tandem mass spectrometry
    • Accession Number:
      EC 3.1.6.14 (N-acetylglucosamine-6-sulfatase)
      EC 3.1.6.- (Sulfatases)
    • Publication Date:
      Date Created: 20231221 Date Completed: 20240122 Latest Revision: 20240207
    • Publication Date:
      20240207
    • Accession Number:
      PMC10842764
    • Accession Number:
      10.1016/j.ymgme.2023.108105
    • Accession Number:
      38128203