Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis - PubMed
2 hours ago
- #Biomarkers
- #Alpha-Mannosidosis
- #LC-MS/MS
- A rapid quantitative method was developed for measuring specific urinary oligosaccharide biomarkers (GlcNAc(Man)2, GlcNAc(Man)3, GlcNAc(Man)4) in Alpha-Mannosidosis (AM) using UPLC-MS/MS.
- The method was validated with high recoveries (88%-108%), precision, low limits of quantification, and stability, analyzing samples from 208 controls, 20 AM patients, and 26 other LSD patients.
- GlcNAc(Man)2 levels showed clear separation between controls and AM patients (0.0-9.0 vs 39.4-99.3 μmol/mmol creatinine, p < 0.0001) and significant differences between untreated and treated patients (ERT and HSCT).
- The method is suitable for selective screening of AM and monitoring treatment efficacy, addressing limitations of previous qualitative or semi-quantitative approaches.