Case study: monitoring of Glc4 tetrasaccharide in the urine of Pompe patients, use of MALDI-TOF MS, and 1H NMR

Pakanová, Zuzana; Matulovà, Maria; Uhliariková, Iveta; Behúlová, Darina; Šalingová, Anna; Hlavatá, Anna; Juríčková, Katarína; Nemčovič, Marek; Pätoprstý, Vladimı́r; Mucha, Ján

doi:10.1007/s11696-018-0623-3

Cited by 6 publications

(2 citation statements)

References 43 publications

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“…According to the literature, most of the signals observed in the urine of MPS IIIA patients are common for various LSDs [12,21,26]. Signals at m/z values of 1293.6, 1497.7, 1701.7, 1905.9, 2110.0, and 2314.0 correspond with a set of oligohexose structures that could originate from an external source (food) or internal glycogen degradation; their increased levels were observed in Pompe patients [27]. Some other signals (m/z 1171.5, 1240.6, 1375.6, 1532.7, 1736.7, 1824.8, 1981.9, 2185.9, and 2547.1) are common also for other MPS subtypes (MPS I, II, IVA or IVB), however, the spectra of urinary oligosaccharide profiles of other MPSs does not contain signals of oligohexoses in such significant intensities.…”

Section: Resultsmentioning

confidence: 99%

Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA

Pančík

Pakanová

Nemčovič

et al. 2023

J. inborn errors metab. screen.

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Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal N-sulphoglucosamine sulphohydrolase, which is one of four enzymes involved in heparan sulfate degradation. Traditional methods used for MPS IIIA diagnostics usually constitute of selective screening, based on the analysis of urinary glycosaminoglycans, further enzymatic assays in leukocytes, and mutation analysis. Nowadays, some LSDs, including mucopolysaccharidoses, can be precisely diagnosed by mass spectrometry-based techniques. Up to this date, there are no comprehensive studies of MPS IIIA diagnostics by MALDI-TOF analysis of free oligosaccharides in urine published. In the presented work, MALDI-TOF/TOF analysis of permethylated oligosaccharides was performed to obtain the set of glyco-biomarkers that together form the specific fingerprint of this disease. Early and accurate diagnostics of MPS IIIA is crucial to stabilize the progressive cellular damage and improve the overall well-being of patients.

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Section: Resultsmentioning

confidence: 99%

Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA

Pančík

Pakanová

Nemčovič

et al. 2023

J. inborn errors metab. screen.

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“…The last proper step to confi rm the diagnosis is analysis of DNA by NGS or simple Sanger sequencing, when there is clear indication for single genetic defect. In addition to diagnostics, advanced analytical techniques may provide subsidiary information about the treatment effi cacy through precise monitoring of levels of biomarkers (Pakanova et al, 2018).…”

Section: Clinical Manifestations and Diagnostics Of Lsdsmentioning

confidence: 99%

Inherited metabolic disorders of glycoconjugate metabolism

Pakanová¹,

Nemčovič²,

Ziburova³

et al. 2020

BLL

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Inherited metabolic disorders of glycoconjugate metabolism include congenital disorders of glycosylation (CDG)-disorders in biosynthesis of glycoconjugates; and some of the lysosomal storage diseases (LSD)-disorders of their degradation. This review summarizes the brief characteristics of metabolic pathways of synthesis and catabolism of glycoconjugates as well as the latest update of relevant enzymatic defects discovered in population. Every year the number of known subtypes of these disorders dramatically increases as a result of high-throughput analytical infrastructure applied. However, due to the broad spectrum of unspecifi c clinical symptoms, many patients remain undiagnosed or have wrong diagnosis with ineffective treatment. Thus, disorders of glycoconjugate metabolism should be considered and ruled out in any unexplained syndrome. The collaboration between scientists and physicians plays an important role in the progress of such personalized diagnostics, that is essential mainly for rare diseases (Tab. 2, Fig. 1, Ref. 49).

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Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020

Harvey

2023

Mass Spectrometry Reviews

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This review is the tenth update of the original article published in 1999 on the application of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry to the analysis of carbohydrates and glycoconjugates and brings coverage of the literature to the end of 2020. Also included are papers that describe methods appropriate to analysis by MALDI, such as sample preparation techniques, even though the ionization method is not MALDI. The review is basically divided into three sections: (1) general aspects such as theory of the MALDI process, matrices, derivatization, MALDI imaging, fragmentation, quantification and the use of arrays. (2) Applications to various structural types such as oligo‐ and polysaccharides, glycoproteins, glycolipids, glycosides and biopharmaceuticals, and (3) other areas such as medicine, industrial processes and glycan synthesis where MALDI is extensively used. Much of the material relating to applications is presented in tabular form. The reported work shows increasing use of incorporation of new techniques such as ion mobility and the enormous impact that MALDI imaging is having. MALDI, although invented nearly 40 years ago is still an ideal technique for carbohydrate analysis and advancements in the technique and range of applications show little sign of diminishing.

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Case study: monitoring of Glc4 tetrasaccharide in the urine of Pompe patients, use of MALDI-TOF MS, and 1H NMR

Cited by 6 publications

References 43 publications

Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA

Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA

Inherited metabolic disorders of glycoconjugate metabolism

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020

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