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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Abbreviations
- AF:
-
Amniotic fluid
- ARSA:
-
Arylsulfatase A
- BAB:
-
Butyl-4-aminobenzoate
- CLN:
-
Ceroid lipofuscinosis
- CS:
-
Chondroitin sulfate
- DBS:
-
Dried blood spots
- DMB:
-
1,9-Dimethylmethylene blue
- DUS:
-
Dried urine spots
- DS:
-
Dermatan sulfate
- ERT:
-
Enzyme replacement therapy
- FD:
-
Fabry disease
- FIA:
-
Flow injection analysis
- GAGs:
-
Glycosaminoglycans
- Gb3 :
-
Globotriaosylceramide
- GD:
-
Gaucher disease
- GlcNAsn:
-
Aspartylglucosamine
- GSD:
-
Glycogen storage disease
- GVUS:
-
Genetic variant of unknown significance
- HS:
-
Heparan sulfate
- IS:
-
Internal standard
- ISSD:
-
Infantile sialic acid storage disorder
- KD:
-
Krabbe disease
- KS:
-
Keratan sulfate
- LALD:
-
Lysosomal acid lipase deficiency
- LC:
-
Liquid chromatography
- LLE:
-
Liquid–liquid extraction
- LSDs:
-
Lysosomal storage disorders
- LSL:
-
Lysosphingolipid
- LysoGalCer:
-
Lysogalactosylceramide
- Lyso-Gb3 :
-
Lysoglobotriaosylceramide
- LysoGlcCer:
-
Lysoglucosylceramide
- LysoHexCer:
-
Lysohexosylceramide
- LysoSM:
-
Lysosphingomyelin
- Lyso509:
-
Analogue 509 of lysosphingomyelin
- MLD:
-
Metachromatic leukodystrophy
- MPS:
-
Mucopolysaccharidosis
- MRM:
-
Multiple reaction monitoring
- MoM:
-
Multiple of median
- MS/MS:
-
Tandem mass spectrometry
- MSD:
-
Multiple sulfatase deficiency
- NBS:
-
Newborn screening
- NIHF:
-
Nonimmune hydrops fetalis
- NP:
-
Niemann–Pick disease
- NPAB:
-
Niemann-Pick disease type A/B
- NPC:
-
Niemann–Pick disease type C
- OS:
-
Oligosaccharides
- PD:
-
Pompe disease
- PMP:
-
1-Phenyl-3-methyl-5-pyrazolone
- RT:
-
Retention time
- SL:
-
Sphingolipid
- SM:
-
Sphingomyelin
- SPE:
-
Solid-phase extraction
- TLC:
-
Thin-layer chromatography
- TOF:
-
Time of flight
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Piraud, M., Pettazzoni, M., Lavoie, P. et al. Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. J Inherit Metab Dis 41, 457–477 (2018). https://doi.org/10.1007/s10545-017-0126-3
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DOI: https://doi.org/10.1007/s10545-017-0126-3