Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses

Piraud, Monique; Pettazzoni, Magali; Ménégaut, Louise; Caillaud, Catherine; Nadjar, Yann; Vianey‐Saban, Christine; Froissart, Roseline

doi:10.1002/rcm.7860

Cited by 22 publications

(39 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These technologies also allow exploration of novel methods and translation to less expensive, accessible or high-throughput instrumentation. An example is the translation of urinary oligosaccharide testing from TLC to MALDI-TOF to LC-ESI-MS/MS [66][67][68][69][70][71]. Several open-source and commercial solutions have been developed for these problems, with notable examples of the former in the metabolic domain being XCMS and Metaboanalyst [72,73].…”

Section: Mass Spectrometry Cheminformatics and Machine Learningmentioning

confidence: 99%

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

Mordaunt

Cox

Fuller

2020

IJMS

View full text Add to dashboard Cite

Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with more common conditions. In the absence of family history and following clinical suspicion, the laboratory diagnosis typically begins with broad screening tests to circumscribe specialised metabolite and/or enzyme assays to identify the specific IEM. Confirmation of the biochemical diagnosis is usually achieved by identifying pathogenic genetic variants that will also enable cascade testing for family members. Unsurprisingly, this diagnostic trajectory is too often a protracted and lengthy process resulting in delays in diagnosis and, importantly, therapeutic intervention for these rare conditions is also postponed. Implementation of mass spectrometry technologies coupled with the expanding field of metabolomics is changing the landscape of diagnosing IEM as numerous metabolites, as well as enzymes, can now be measured collectively on a single mass spectrometry-based platform. As the biochemical consequences of impaired metabolism continue to be elucidated, the measurement of secondary metabolites common across groups of IEM will facilitate algorithms to further increase the efficiency of diagnosis.

show abstract

Section: Mass Spectrometry Cheminformatics and Machine Learningmentioning

confidence: 99%

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

Mordaunt

Cox

Fuller

2020

IJMS

View full text Add to dashboard Cite

show abstract

“…A subsequent study identified several species of sialylated oligosaccharides in the urinary samples of affected individuals [42]. More recent studies have quantified sialylated oligosaccharide concentrations using LC-MS/MS [39,44]. Additionally, sialylated oligosaccharides have been postulated to play a biological role through extending the half-life of proteins.…”

Section: Oligosaccharidesmentioning

confidence: 99%

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry

Mashima

Okuyama

Ohira

2020

IJMS

View full text Add to dashboard Cite

Lysosomal storage disorders (LSDs) are characterized by an accumulation of various substances, such as sphingolipids, mucopolysaccharides, and oligosaccharides. The LSD enzymes responsible for the catabolism are active at acidic pH in the lysosomal compartment. In addition to the classically established lysosomal degradation biochemistry, recent data have suggested that lysosome plays a key role in the autophagy where the fusion of autophagosome and lysosome facilitates the degradation of amino acids. A failure in the lysosomal function leads to a variety of manifestations, including neurovisceral disorders. While affected individuals appear to be normal at birth, they gradually become symptomatic in childhood. Biomarkers for each condition have been well-documented and their proper selection helps to perform accurate clinical diagnoses. Based on the natural history of disorders, it is now evident that the existing treatment becomes most effective when initiated during presymptomatic period. Neonatal screening provides such a platform for inborn error of metabolism in general and is now expanding to LSDs as well. These are implemented in some areas and countries, including Taiwan and the U.S. In this short review, we will discuss several issues on some selected biomarkers for LSDs involving Fabry, Niemann–Pick disease type C, mucopolysaccharidosis, and oligosaccharidosis, with a focus on mass spectrometry application to biomarker discovery and detection.

show abstract

“…Considering the lack of commercially available standards, this preliminary study was necessary to elucidate the MS/MS fragmentation behavior of these compounds, which would not be possible on a triple quadrupole analyzer. Results were transposed to build an OS MRM analysis method on a triple quadrupole analyzer to obtain a routine assay suitable for diagnostic laboratories (Piraud et al 2017). The method includes an LC step.…”

Section: Oligosaccharidosesmentioning

confidence: 99%

“…This brought a higher specificity, sensitivity, and accuracy to the measurement of urinary sialic acid and enabled a more reliable screening of these very rare disorders, avoiding numerous sources of interference observed with the previous method; free sialic acid content in cultured cells can also be measured using this method (van den Bosch et al 2011). Quantitative MS/MS measurement of free sialic acid can be combined with MS/MS urinary OS analysis (Piraud et al 2017).…”

Section: Free Sialic Acid Storage Disordersmentioning

confidence: 99%

“…OS analysis can be combined with quantitative measurement of free sialic acid (Piraud et al 2017). Abnormal OS can be detected by MS/MS early in pregnancy (at least 12 weeks of gestation) and thus can be used whatever the pregnancy stage, either for prenatal diagnosis of a family disease or for screening for LSD in case of abnormal ultrasonographic findings as soon as in utero manifestations appears.…”

Section: Biomarkers In Amniotic Fluid Supernatantmentioning

confidence: 99%

See 1 more Smart Citation

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

Piraud

Pettazzoni

Lavoie

et al. 2018

J of Inher Metab Disea

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses

Cited by 22 publications

References 42 publications

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry

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

Contact Info

Product

Resources

About