Table 2.
Characteristic patterns of biomarkers and associated diseases detected in urine (oligosaccharidoses, mucopolysaccharidoses, glycogen storage disorders, and congenital disorders of glycosylation and de-glycosylation) and serum (sphingolipidoses). Diseases are characterized by overall biomarker pattern rather than the presence of any single biomarker since individual biomarkers may be present in more than one disease.
| Disorder | Defective protein | Biomarker(s) |
|---|---|---|
| α-Mannosidosis | α-D-mannosidase | hex2-hexNAc, hex3-hexNAc, hex4-hexNAc |
| β-Mannosidosis | β-mannosidase | man-glcNAc |
| Aspartylglucosaminuria | Aspartylglucosaminidase | glcNAc-asn, neuAC-hex-hexNAc-asn, neuAC-hex2-hexNAc2-asn, hex2-hexNAc2-asn, hex-glcNAc-asn |
| NGLY1 deficiency | N-glycanase 1 | glcNAc-asn, neuAC-hex2-hexNAc2-asn, hex-glcNAc-asn |
| Schindler disease | α-N-acetylgalactosaminidase | galNAc-O-ser, galNAc-O-thr |
| Sialuria | Sialin | sialic acid |
| Fucosidosis | α-fucosidase | fuc-hexNAc-asn, fuc-hexNAc2-hex3 |
| GM1-gangliosidosis | β-galactosidase | hex3-hexNAc2, hex4-hexNAc2, hex5-hexNAc3 |
| Sandhoff disease | Hexosaminidase A and B | hex2-hexNAc2, hex3-hexNAc3, hex3-hexNAc4 |
| Galactosialidosis | Cathepsin A | hex3-hexNAc2, hex4-hexNAc2, hex5-hexNAc3, neuAC-hex3-hexNAc2 |
| ML 1 (Sialidosis) | Neuraminidase | neuAC-hex3-hexNAc2 |
| ML 2 (I-cell disease) | N-acetylglucosamine-1-phosphotransferase | neuAC-hex3-hexNAc2, hex3-hexNAc2, and general elevation of oligosaccharides and glycosaminoglycan fragments |
| ML 3 (Pseudo-Hurler polydystrophy) | N-acetylglucosamine-1-phosphotransferase | neuAC-hex3-hexNAc2 |
| Pompe disease | α-glucosidase | glc4 |
| MOGS-CDG | glucosidase 1 | glc3-man |
| MPS 1 (Hurler) | α-L-iduronidase | UA-hexNAc-S-UA-hexNAc-S, UA-hexNAc-S-UA, neuAC-hex3-hexNAc2 |
| MPS 2 (Hunter) | Iduronate 2-sulphatase | UA-hexNAc-S-UA, UA-hexNAc-S-UA-hexNAc-S, neuAC-hex3-hexNAc2 |
| MPS 3a (Sanfilippo A) | N-sulfoglucosamine sulfohydrolase | hexN-S-UA, hexN-S, MPS 3813, neuAC-hex3-hexNAc2 |
| MPS 3b (Sanfilippo B) | N-acetyl-α-D-glucosaminidase | hexNAc-S-UA-hexNAc-UA, neuAC-hex3-hexNAc2 |
| MPS 4a (Morquio A) | Galactosamine-6-sulfatase | hex-S-hexNAc-S, neuAC-hex-hexNAc-S, hexNAc-S (RT 1.5 min), hex3-hexNAc2-S, hexNAc-S-UA-hexNAc-S, neuAC-hex3-hexNAc2 |
| MPS 4b (Morquio B) | β-galactosidase | hex3-hexNAc2, hex4-hexNAc2, hex5-hexNAc3 |
| MPS 6 (Maroteaux-Lamy) | n-acetylgalactosamine-4-sulfatase | hexNAc-S (RT 0.7 min), hexNAc-disulfate, hexNAc-S-UA-hexNAc-S, hexNAc-S-UA-hexNAc-S, neuAC-hex3-hexNAc2 |
| MPS 7 (Sly) | β-glucuronidase | UA-hexNAc-S, UA-hexNAc, hexNAc-UA-hexNAc, neuAC-hex3-hexNAc2 |
| Gaucher disease | β-glucocerebrosidase | glucosylsphingosine |
| Krabbe disease | Galactosylceramidase | galactosylsphingosine |
| Fabry disease | α-galactosidase A | lyso-Gb3 |
| Niemann Pick disease types A and B | Sphingomyelinase | lyso-SM |