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19.03.2018 | Metabolomics

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

verfasst von: Monique Piraud, Magali Pettazzoni, Pamela Lavoie, Séverine Ruet, Cécile Pagan, David Cheillan, Philippe Latour, Christine Vianey-Saban, Christiane Auray-Blais, Roseline Froissart

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 3/2018

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Abstract

Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of lysosomal storage disorders (LSDs) and how MS/MS has changed the diagnostic rationale in recent years. This fine technology brings more sensitive, specific, and reliable methods than the previous biochemical ones for the analysis of urinary glycosaminoglycans, oligosaccharides, and sialic acid. In sphingolipidoses, the quantification of urinary sphingolipids (globotriaosylceramide, sulfatides) is possible. The measurement of new plasmatic biomarkers such as oxysterols, bile acids, and lysosphingolipids allows the screening of many sphingolipidoses and related disorders (Niemann–Pick type C), replacing tedious biochemical techniques. Applied to amniotic fluid, a more reliable prenatal diagnosis or screening of LSDs is now available for fetuses presenting with antenatal manifestations. Applied to enzyme measurements, it allows high throughput assays for the screening of large populations, even newborn screening. The advent of this new method can modify the diagnostic rationale behind LSDs.

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Titel: Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
verfasst von: Monique Piraud
Magali Pettazzoni
Pamela Lavoie
Séverine Ruet
Cécile Pagan
David Cheillan
Philippe Latour
Christine Vianey-Saban
Christiane Auray-Blais
Roseline Froissart
Publikationsdatum: 19.03.2018
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 3/2018
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-017-0126-3

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Springer Medizin

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