Patients affected by a lysosomal storage disorder (LSD) are unable to properly degrade specific macromolecules such as glycosaminoglycans (GAGs), glycoproteins and sphingolipids. The accumulation of partially degraded substrate in the lysosome results in cellular toxicity, and often, excess urinary excretion. Traditional urine-based screening for the glycoproteinoses, a group of LSD also known as oligosaccharidoses, include qualitative separation of free oligosaccharides (FOS) via thin layer chromatography (TLC). Accurate diagnosis by TLC method suffers from its lack of both sensitivity and specificity caused by interfering non-specific bands from medicine and food, as well as the subjective interpretation of the banding patterns. Our laboratory has validated an UPLC-MS/MS method for the detection and measurement of disease-specific oligosaccharide species, which improves the sensitivity and specificity of the urine-based oligosaccharides screening and, therefore, improves its diagnostic utility. Furthermore, the semi-quantification approach shows the potential of using this assay to monitor treatment efficacy.
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