Table 1.
Urinary biomarkers of mucopolysaccharidoses. Untargeted glycomic profiling of 113 mucopolysaccharidosis urines revealed 20 biomarkers for subtyping mucopolysaccharidoses. The table gives representative data for observed retention time, m/z, and CCS values. We compared annotations to biomarkers from previously published underivatized or derivatized methods: s - reported by Fuller et al. [27] or Saville et al. [21] for the same MPS; d - reported by Fuller et al. or Saville et al. for a different MPS; p - reported by Piraud et al. [17]; r – reported by Ramsay et al. [19] Biomarkers without a footnote indicate an unreported biomarker-disease association. Abbreviations: collision cross section in square Angstroms (CCS (Å2)); hexose (hex); uronic acid (UA); hexosamine (hexN); n-acetylhexosamine (hexNAc); n-acetylneuraminic acid (neuAC); dermatan sulfate (DS); heparan sulfate (HS); keratan sulfate (KS).
| Biomarker number | Annotation (with probable origin) | Predominant MPS association | Formula | Retention Time (min) | Adduct | Expected m/z | Observed m/z | Mass error (ppm) | Observed CCS (Å2) |
|---|---|---|---|---|---|---|---|---|---|
| #1 d | hexNAc-s-UA-hexNAc-s-UA (DS, HS) | 1, 2, 3 | C28H44N2O29S2 | 3.0 | M−2H | 467.0662 | 467.0666 | 0.9 | 317 |
| #2 s | UA-s-hexNAc-UA (DS, HS) | 2, 1, 3 | C20H31NO21S | 3.2 | M−H | 652.1036 | 652.1004 | −4.9 | 224 |
| #3 s | hexN-s-UA (HS) | 3a, 1 or 2 | C12H21NO14S | 2.4 | M−H | 434.0610 | 434.0592 | − 4.1 | 226 |
| #4 | hexN-s (HS) | 3a, 1 or 2 | C6H13NO8S | 1.7 | M−H | 258.0289 | 258.0272 | −6.6 | 144 |
| #5 s | hexNAc-s-UA-hexNAc-UA (HS) | 3b | C28H44N2O26S | 2.6 | M−H | 855.1830 | 855.1802 | −3.3 | 266 |
| #6 | MPS813 | 3 | 3.0 | 813.1683 | 247 | ||||
| #7 | hex-s-hexNAc-s (KS) | 4a | C14H25NO17S2 | 1.9 | M−2H | 270.5209 | 270.5205 | −1.6 | 129 |
| #8 | neuAC-hex-hexNAc-s (KS) | 4a | C25H42N2O22S | 2.3 | M−H | 753.1877 | 753.1844 | − 4.4 | 245 |
| #9 s | hexNAc-s (KS) | 4a | C8H15NO9S | 1.5 | M−H | 300.0395 | 300.0387 | −2.6 | 154 |
| #10 | hex3-hexNAc2-s (KS) | 4b, 4a | C34H58N2O29S | 3.1 | M−H | 989.2773 | 989.2727 | − 4.7 | 285 |
| #11 | hexNAc-s-UA-hexNAc-s | 4a or 6 | C22H36N2O23S2 | 2.4 | M−2H | 379.0502 | 379.0500 | −0.7 | 288 |
| #12 pr | hex3-hexNAc2 (KS) | 4b | C34H58N2O26 | 4.8 | M+H | 911.3351 | 911.3335 | −1.7 | 273 |
| #13 r | hex4-hexNAc2 (KS) | 4b | C40H68N2O31 | 5.0 | M+H | 1073.3879 | 1073.3881 | 0.2 | 295 |
| #14 pr | hex5-hexNAc3 (KS) | 4b | C54H91N3O41 | 5.3 | M+H | 1438.5201 | 1438.5193 | −0.5 | 346 |
| #15 s | hexNAc-s (DS) | 6 | C8H15NO9S | 0.7 | M−H | 300.0395 | 300.0394 | −0.2 | 158 |
| #16 s | hexNAc-disulfate (DS) | 6 | C8H15NO12S2 | 1.6 | M−2H | 189.4945 | 189.4936 | −4.8 | 217 |
| #17 d | hexNAc-s-UA (DS) | 7 | C14H23NO15S | 1.8 | M−H | 476.0716 | 476.0715 | −0.1 | 198; 191 |
| #18 | hexNAc-UA (DS) | 7 | C14H23NO12 | 2.0 | M−H | 396.1148 | 396.1144 | −0.9 | 181 |
| #19 | hexNAc-UA-hexNAc (DS) | 7 | C22H36N2O17 | 2.4 | M−H | 599.1941 | 599.1924 | −2.9 | 235 |
| #20 p | neuAC-hex3-hexNAc2 | MPS | C45H75N3O34 | 3.9 | M+H | 1202.4305 | 1202.4310 | 0.4 | 312 |