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

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