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01-05-2018 | Metabolomics

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

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

Published in: Journal of Inherited Metabolic Disease | Issue 3/2018

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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Title: Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
Authors: Monique Piraud
Magali Pettazzoni
Pamela Lavoie
Séverine Ruet
Cécile Pagan
David Cheillan
Philippe Latour
Christine Vianey-Saban
Christiane Auray-Blais
Roseline Froissart
Publication date: 01-05-2018
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 3/2018
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-017-0126-3

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Illustration of figure on mountain summit/© Orapun / Stock.adobe.com, STEP AAG HeroTeaserCollection image/© Tarek / Generated with AI / Stock.adobe.com, ACC 2024 Pediatric and Congenital Heart Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 Pulmonary Vascular Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 Valvular Heart Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 HF and Cardiomyopathies: Year in Review/© 2024 American College of Cardiology, Woman out walking/© Seventyfour / stock.adobe.com (symbolic image with model), Woman checking smartwatch /© saltdium / stock.adobe.com (symbolic image with model), Cardiac catheterization/© Damian / stock.adobe.com

At a glance: The STEP trials

Springer Medicine

Abstract

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Other articles of this Issue 3/2018

“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing

Plasma lipidomics as a diagnostic tool for peroxisomal disorders

The functional genomics laboratory: functional validation of genetic variants

Targeted versus untargeted omics — the CAFSA story

Promises and pitfalls of untargeted metabolomics

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

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