Table 2.
Age-specific reference ranges for the key diagnostic biomarkers in µmol/mol creatinine.
| Apparent concentration, µmol/mol creatinine |
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| <2 months | 2 months to 1 year | 1 to 3 years | > 4 years | |||||||||
| UA-HexNAc-1S, #1 | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 |
| UA-HexNAc-1S, #2 | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 |
| UA-HexN-UA-2S | 0.0 | - | 9.7 | 0.0 | - | 13.3 | 0.0 | - | 8.2 | 0.0 | - | 8.0 |
| HexN-UA-1S | 0.0 | - | 49.7 | 0.0 | - | 49.7 | 0.0 | - | 41.0 | 0.0 | - | 24.6 |
| HexN-UA-HexNAc-UA-2S | 0.0 | - | 16.3 | 0.0 | - | 19.2 | 0.0 | - | 18.8 | 0.0 | - | 10.5 |
| HexNAc-UA-HexNAc-1S | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 |
| (HexNAc-UA)2 | 0.0 | - | 28.5 | 0.0 | - | 18.0 | 0.0 | - | 11.4 | 0.0 | - | 5.0 |
| HexN-UA-HexNAc-1S, #2 | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 |
| (HexN-UA)2-HexNAc-2S | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 | 0.0 | - | 8.0 |
| HexNAc-UA-1S, #2 | 0.0 | - | 52.8 | 0.0 | - | 42.9 | 0.0 | - | 34.2 | 0.0 | - | 10.0 |
| HexNAc-UA-HexNAc-2S | 32.8 | - | 483.5 | 43.6 | - | 251.5 | 19.8 | - | 159.6 | 0.0 | - | 87.8 |
| UA-HexNAc | 1470.0 | - | 9883.4 | 714.7 | - | 4600.7 | 355.1 | - | 2900.2 | 312.5 | - | 2144.3 |
| HexNAc-UA-HexNAc | 147.6 | - | 981.2 | 66.0 | - | 430.7 | 35.2 | - | 238.1 | 25.0 | - | 186.9 |
| Hex3-HexNAc2 | 0.0 | - | 78.5 | 0.0 | - | 32.7 | 0.0 | - | 25.7 | 0.0 | - | 17.5 |
| Hex5-HexNAc3 | 0.0 | - | 79.6 | 0.0 | - | 20.9 | 0.0 | - | 18.9 | 0.0 | - | 15.0 |
| Hex2-HexNAc3 | 0.0 | - | 12.0 | 0.0 | - | 7.3 | 0.0 | - | 5.3 | 0.0 | - | 4.0 |
| Hex3-HexNAc4 | 0.0 | - | 4.0 | 0.0 | - | 4.0 | 0.0 | - | 4.0 | 0.0 | - | 4.0 |
| Hex-HexNAc | 4674.7 | - | 24048.9 | 1612.4 | - | 18383.1 | 1474.9 | - | 10425.1 | 1124.5 | - | 5870.9 |
| Hex3-HexNAc | 99.2 | - | 462.1 | 94.4 | - | 449.7 | 53.4 | - | 325.6 | 35.0 | - | 204.6 |
| Hex4-HexNAc | 0.0 | - | 103.1 | 0.0 | - | 69.9 | 0.0 | - | 62.4 | 0.0 | - | 30.9 |
| Fuc-HexNAc | 244.5 | - | 1184.7 | 206.5 | - | 1217.4 | 124.9 | - | 768.5 | 55.9 | - | 467.4 |
| Neu5Ac-Hex3-HexNAc2 | 0.0 | - | 34.3 | 0.0 | - | 30.1 | 0.0 | - | 22.6 | 0.0 | - | 20.2 |
| Neu5Ac2-Hex5-HexNAc3 | 0.0 | - | 217.6 | 0.0 | - | 60.1 | 0.0 | - | 48.6 | 0.0 | - | 38.5 |
| Hex4 | 0.0 | - | 19058.9 | 0.0 | - | 15977.0 | 0.0 | - | 9748.6 | 0.0 | - | 3132.1 |
| Hex3 | 0.0 | - | 58454.4 | 0.0 | - | 59415.3 | 0.0 | - | 15621.0 | 0.0 | - | 4936.0 |
| GlcNAc-Asn | 0.0 | - | 10156.1 | 0.0 | - | 11192.9 | 0.0 | - | 11624.3 | 0.0 | - | 3649.5 |
| GalNAc-Thr | 0.0 | - | 2882.4 | 0.0 | - | 1903.3 | 0.0 | - | 771.6 | 0.0 | - | 297.1 |
| GlcNAc-6S | 0.0 | - | 6430.5 | 0.0 | - | 10318.7 | 0.0 | - | 3850.6 | 0.0 | - | 1773.0 |
| GalNAc-6S | 0.0 | - | 12025.3 | 0.0 | - | 4825.5 | 0.0 | - | 3666.9 | 0.0 | - | 2115.9 |
| GalNAc-4S | 0.0 | - | 64997.7 | 0.0 | - | 18435.7 | 0.0 | - | 15188.3 | 0.0 | - | 9952.0 |
| GalNAc-6S/GalNAc-4S | 0.22 | - | 0.64 | 0.18 | - | 0.43 | 0.16 | - | 0.34 | 0.13 | - | 0.29 |
| Hex4/Hex3 | 0.00 | - | 1.71 | 0.00 | - | 2.41 | 0.00 | - | 3.19 | 0.00 | - | 2.90 |