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Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.

Authors :
Bekri, Soumeya
Bley, Annette
Brown, Heather A.
Chanson, Charlotte
Church, Heather J.
Gelb, Michael H.
Hong, Xinying
Janzen, Nils
Kasper, David C.
Mechtler, Thomas
Morton, Georgina
Murko, Simona
Oliva, Petra
Tebani, Abdellah
Wu, Teresa H.Y.
Source :
Molecular Genetics & Metabolism. May2024, Vol. 142 Issue 1, pN.PAG-N.PAG. 1p.
Publication Year :
2024

Abstract

Newborn screening (NBS) for metachromatic leukodystrophy (MLD) is based on first-tier measurement of sulfatides in dried blood spots (DBS) followed by second-tier measurement of arylsulfatase A in the same DBS. This approach is very precise with 0–1 false positives per ∼30,000 newborns tested. Recent data reported here shows that the sulfatide molecular species with an α-hydroxyl, 16‑carbon, mono-unsaturated fatty acyl group (16:1-OH-sulfatide) is superior to the original biomarker 16:0-sulfatide in reducing the number of first-tier false positives. This result is consistent across 4 MLD NBS centers. By measuring 16:1-OH-sulfatide alone or together with 16:0-sulfatide, the estimated false positive rate is 0.048% and is reduced essentially to zero with second-tier arylsulfatase A activity assay. The false negative rate is predicted to be extremely low based on the demonstration that 40 out of 40 newborn DBS from clinically-confirmed MLD patients are detected with these methods. The work shows that NBS for MLD is extremely precise and ready for deployment. Furthermore, it can be multiplexed with several other inborn errors of metabolism already tested in NBS centers worldwide. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
10967192
Volume :
142
Issue :
1
Database :
Academic Search Index
Journal :
Molecular Genetics & Metabolism
Publication Type :
Academic Journal
Accession number :
177035014
Full Text :
https://doi.org/10.1016/j.ymgme.2024.108436