Table 7 Summary of plasma I2S activity and urinary GAGs concentration at baseline according to phenotype and age at diagnosis
Plasma enzyme assay level (nmol/mg plasma/4 h) | Plasma enzyme assay level (uM/hr) | Urinary GAG concentration (mg/mg creatinine) | HS ng/ug Crea | DS ng/ug Crea | |
|---|---|---|---|---|---|
According to phenotype | |||||
Attenuated (n = 8) M (SD) range | 0.37 (0.31) 0.01–0.91 | NA | 465.73 (211) 145.35–692.59 | NA | NA |
Severe (n = 32) M (SD) range | 0.58 (0.62) 0.01–2.34 | 0.124 (0.031) 0.09–0.17 | 547.04 (210.98) 126.1–911.46 | 35.87 (17.15) 14.85–58.4 | 21.22 (15.38) 4.33–45.8 |
Plasma enzyme assay level (nmol/mg plasma/4 h) | Plasma enzyme assay level (> 4.45 uM/hr) | Urinary GAG concentration (mg/mg creatinine) | HS ng/ug Crea | DS ng/ug Crea | |
|---|---|---|---|---|---|
According to age at diagnosis | |||||
< 6 years (n = 15) | 0.50 (0.59) 0.01–1.96 | 0.1 (0.01) 0.09–0.11 | 548.72 (232.12) 238.09–911.45 | 52.12 (6.92) 42.28–58.4 | 17.51 (11.74) 4.33–31.67 |
6–10 years (n = 20) | 0.55 (0.59) 0.01–2.34 | 0.11 N/A | 494.72 (205.92) 126.1–778.62 | 20.48 (0.45) 20.16–20.8 | 26.8 (26.87) 7.8–45.8 |
> 10 years (n = 5) | 0.39 (0.52) 0.04–1.15 | NA | 549.65 NA | 21.19 (8.96) 14.85–27.53 | 18.12 (19.30) 4.47–31.76 |