Table 2.
Referred and/or confirmed MPS I, II, and VI cases
| DBS enzyme activity1 | WBC enzyme activity | Urine DMB GAG ratio | Urine disaccharide level2 | Clinical decision | Ref. of variants | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DS | HS | KS | ||||||||||
| Variants | Gender | Number | (umole/L/Hr) | (% of mean) | (nmol/Hr/mg protein) | (mg/mmol creatinine) | (ug/ml) | (ug/ml) | (ug/ml) | |||
| MPS I screening | ||||||||||||
| MPS I_Case 01 | c.300–3C>G | M | 1 | 0.42 | 3.50 | 0.4 | 107 | 10.9 | 2.67 | 7.75 | confirmed | Pathogenic mutation |
| c.1874A>C, p.Y625S | Novel variant | |||||||||||
| MPS I_Case 02 | c.1037T>G, p.L346R; | F | 1 | 0.59 | 4.92 | 0.2 | 204.7 | 99.60 | 13.31 | 0.83 | confirmed | Pathogenic mutation |
| c.1091C>T, p.T364M | Pathogenic mutation | |||||||||||
| MPS I_Case 03 | c.1037T>G, p.L346R; | F | 1 | 0.51 | 4.25 | 0.2 | 239.3 | 41.04 | 2.93 | 0.00 | confirmed | Pathogenic mutation |
| c.1091C>T, p.T364M | Pathogenic mutation | |||||||||||
| MPS I_Case 04 | c.1079T>G, p.F360C | M | 1 | 0.54 | 4.50 | Refused F/U | -- | -- | -- | -- | -- | Novel variant |
| c.1359_1384del, p.S453Rfs*47 | Novel variant | |||||||||||
| MPS I_Case 05 | c.300–3C>G | F | 1 | 0.56 | 4.50 | 0.1 | 65.7 | 4.76 | 3.53 | 0.17 | confirmed | Pathogenic mutation |
| c.1874A>C, p.Y625S | Novel variant | |||||||||||
| Cut-off value | >4 | >25 | >1.7 | <68.3 | <0.80 | <0.41 | <17.8 | |||||
| MPS II screening | ||||||||||||
| Non-MPS II cases 01~54 | c.103+34_56dup | 53M1F | 54 | 0.58–1.94 | 2.61–8.92 | 0.3–2.0 | 21.4–74.1 | 0–0.64 | 0–0.54 | 0–7.51 | Normal, keep F/U | likely benign polymorphism |
| c.851C>T, p.P284L | likely benign polymorphism | |||||||||||
| Non-MPS II cases 55~72 | c.1499C>T, p.T500I | M | 18 | 1.53–2.92 | 7.03–13.90 | 3.3–8.6 | 39.4–62.4 | 0–0.38 | 0–0.04 | 0–5.80 | Normal | Benign polymorphism |
| Non-MPS II cases 73~76 | c.1478G>A, p.R493H | M | 4 | 0.85–1.52 | 3.91–6.99 | 3.2–9.9 | 22.5–68.4 | 0–0.38 | 0–0.1 | 0–2.7 | Normal, keep F/U | Novel variant |
| Non-MPS II case 77 | c.890G>A, p.R297H | M | 1 | 1.14 | 5.24 | 2.3 | 69.7 | 0.08 | 0.04 | 3.47 | Normal, keep F/U | Novel variant |
| Non-MPS II case 78 | c.589C>T, p.P197S | M | 1 | 2.05 | 9.43 | 2.0 | 63.8 | 0.38 | 1.46 | 6.35 | Normal, keep F/U | Novel variant |
| MPS II_Case 01 | c.817C>T, p.R273W | M | 1 | 0.11 | 0.51 | 0.1 | 77.3 | 7.40 | 1.83 | 6.13 | confirmed | Novel variant |
| MPS II_Case 02 | c.1025A>G, p.H342R | M | 1 | 0.44 | 2.02 | 0.1 | 70.9 | 21.20 | 12.10 | 6.47 | confirmed | Novel variant |
| MPS II_Case 03 | c.311A>T, p.D104V | M | 1 | 0.20 | 0.92 | 0.1 | 114.0 | 15.60 | 103.40 | 1.40 | confirmed | Novel variant |
| Cut-off value | >6.5 | >30 | >3.2 | <68.3 | <0.8 | <0.41 | <17.8 | |||||
| MPS VI screening | ||||||||||||
| Non-MPS VI case 01 | Not found | M | 1 | 17.79 | 28.81 | 4.1 | 44.4 | 0.20 | 0.10 | 2.50 | Normal | -- |
| Non-MPS VI case 02 | c.716A>G, p.Q293R | F | 1 | 18.49 | 29.90 | 4.9 | 35.8 | 0.09 | 0.02 | 3.50 | Carrier, normal | Novel variant |
| Cut-off value | >21 | >30 | >3.5 | <68.3 | <0.80 | <0.41 | <17.8 | |||||
1
enzyme activities from the first DBS
2
DS: Dermatan sulfate; HS: Heparan sulfate; KS: Keratan sulfate