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. Author manuscript; available in PMC: 2022 May 4.
Published in final edited form as: Mol Genet Metab. 2021 Aug 21;134(1-2):43–52. doi: 10.1016/j.ymgme.2021.08.006

Fig. 1.

Fig. 1.

Chromatography of characteristic glycan and glycolipid biomarkers for each LSD. Merged chromatograms (retention time [x-axis] versus relative peak intensity [y-axis]) from targeted LC-MS/MS showing representative peaks of characteristic disease biomarkers. Oligosaccharidoses and mucopolysaccharidoses biomarkers were taken from positive urine samples and sphingolipidoses biomarkers were taken from ERNDIM serum samples. For galactosylsphingosine, an authentic standard was spiked into an ERNDIM sample. (A) Biomarkers of oligosaccharidoses and sphingolipidoses, and (B) biomarkers of mucopolysaccharidoses, as follows: 1) neuAC-hex-hexNAc, 2) hexNAc-asn, 3) neuAC-hex3-hexNAc2, 4) hex-hexNAc-asn, 5) hex2-hexNAc2-asn, 6) hex2-hexNAc, 7) hex3-hexNAc, 8) hex4-hexNAc, 9) sialic acid, 10) hexNAc-serine, 11) hexNAc-threonine, 12) fuc-hexNAc-asn, 13) fuc-hexNAc2-hex3, 14) hex3-hexNAc2, 15) hex4-hexNAc2, 16) hex5-hexNAc3, 17) hex2-hexNAc2, 18) hex3-hexNAc3, 19) hex3-hexNAc4, 20) man-hexNAc, 21) neuAC-hex3-hexNAc2, 22) glc3-man, 23) glc4, 24) glucosylsphingosine, 25) galactosylsphingosine standard, 26) lyso-sphingomyelin, 27) lyso-Gb3, 28) UA-hexNAc-s-UA-hexNAc-s, 29) UA-hexNAc-s-UA, 30) hexN-s, 31) hexN-s-UA, 32) hexNAc-s-UA-hexNAc-UA, 33) MPS 813, 34) hexNAc-s, 35) hex-s-hexNAc-s, 36) neuAC-hex-hexNAc-s, 37) hexNAc-s-UA-hexNAc-s, 38) hex3-hexNAc2-s, 39) hexNAc-s, 40) hexNAc-disulfate, 41) UA-hexNAc-s, 42) UA-hexNAc, 43) hexNAc-UA-hexNAc. Abbreviations: asparagine (asn); fucose (fuc); globotriaosylsphingosine (gb3); glucose (glc); hexose (hex); hexN (hexosamine); n-acetylhexosamine (hexNAc); n-acetylneuraminic acid (neuAC); mannose (man); sulfate (s); uronic acid (UA).