Molecular diagnosis of Pompe disease using MALDI TOF/TOF and 1H NMR
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Zuzana Pakanová
,
Mária Matulová
Abstract
Pompe disease, glycosomal storage disorder type II, is caused by a deficiency of lysosomal exo-α- 1,4-glucosidase, which participates in glycogen degradation. Due to the wide variety of its clinical symptoms, this lysosomal storage disorder is difficult to diagnose. The “gold standard” diagnosis of Pompe disease is based on an enzyme activity analysis in leucocytes, dried blood spots or tissues, followed by confirmation through mutational analysis. Screening of many inborn metabolic diseases normally requires also the detection of a specific metabolite. In Pompe disease, high levels of a specific glucose tetrasaccharide, αGlc(1→6)αGlc(1→4)αGlc(1→4)Glc, accumulate in patients’ urine. Some medical laboratories continue to favour traditional 1-dimensional TLC for the analysis of urine oligosaccharides, however, this method has some limitations in its analytical specificity and sensitivity. More modern and robust spectral techniques, including mass spectrometry and NMR spectroscopy, possess many advantages and are increasingly used. Here, the different analytical methods applied in Pompe disease diagnosis are experimentally compared.
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Institute of Chemistry, Slovak Academy of Sciences
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Artikel in diesem Heft
- Synthesis and properties of new N,N′-phenyltetrazole podand
- Molecular diagnosis of Pompe disease using MALDI TOF/TOF and 1H NMR
- Erythritol biosynthesis from glycerol by Yarrowia lipolytica yeast: effect of osmotic pressure
- Cloning and expression of two genes coding endo-β-1,4-glucanases from Trichoderma asperellum PQ34 in Pichia pastoris
- Adsorption desulphurisation of dimethyl sulphide using nickel-based Y zeolites pretreated by hydrogen reduction
- Equilibrium and kinetics of wetting hydrophobic microporous membrane in sodium dodecyl benzene sulphonate and diethanolamine aqueous solutions
- Separation of urea adducts in the analysis of complex mineral fertilisers
- Cheese whey tangential filtration using tubular mineral membranes
- Characterization of the quality of novel rye-buckwheat ginger cakes by chemical markers and antioxidant capacity
- A new high-temperature inorganic–organic proton conductor: lanthanum sulfophenyl phosphate
- Membranes with a plasma deposited titanium isopropoxide layer
- Effect of fuel content on formation of zinc aluminate nano and micro-particles synthesised by high rate sol–gel autoignition of glycine-nitrates
- Poly(butyl cyanoacrylate) nanoparticles stabilised with poloxamer 188: particle size control and cytotoxic effects in cervical carcinoma (HeLa) cells
- Solubility enhancement of phenanthrene using novel chelating surfactant
- Physicochemical and excess properties of binary mixtures of (1-alkyl-3-methylimidazoliumchloride/bromide + ethylene glycol) at T = (288.15 to 333.15) K
