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

Mucopolysaccharidosis Newborn screening Sanfilippo Syndrome type D Tandem mass spectrometry

Journal

Molecular genetics and metabolism

ISSN: 1096-7206

Titre abrégé: Mol Genet Metab

Pays: United States

ID NLM: 9805456

Informations de publication

Date de publication:
30 Nov 2023

Historique:

received: 23 09 2023

revised: 27 11 2023

accepted: 27 11 2023

medline: 22 12 2023

pubmed: 22 12 2023

entrez: 21 12 2023

Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1016/j.ymgme.2023.108105 PMID: 38128203

pubmed: 38128203

pii: S1096-7192(23)00735-7

doi: 10.1016/j.ymgme.2023.108105

pii:

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Pagination

108105

Informations de copyright

Déclaration de conflit d'intérêts

Declaration of Competing Interest None.