Table 4 Enzyme activity in plasma (nmol/ml/min) and result of mutation analysis
Patient No | Hexosaminidase A | Hexosaminidase B | Hexosaminidase AB | Mutations | Novel mutations |
|---|---|---|---|---|---|
1 | 0.27 | 0.09 | 1.00 | c.1602C > A (p.Cys534Ter) | + |
2 | 0.18 | 0.00 | 0.5 | c.833C > T (P.Ala278Val) | + |
3 | 0.23 | 0.03 | 0.72 | c.850C > T (p.Arg284Ter) | Zampieri 2009 [19] |
4 | 0.12 | 0.78 | 0.46 | c.1641_1657del | + |
5 | 0.25 | 0.62 | 1.88 | – | – |
6 | 0.13 | 0.04 | 0.5 | c.833C > T(p.Ala278val) | + |
7 | 0.18 | 0.02 | 0.57 | – | – |
8 | 0.06 | 0.02 | 0.00 | – | – |
9 | 0.16 | 0.00 | 0.2 | – | – |
10 | 0.18 | 0.10 | 0.03 | – | – |
11 | 0.06 | 0.33 | 0.2 | – | – |
12 | 0.1 | 0.8 | 0.5 | – | |
13 | 0.15 | 0.03 | 0.53 | c.668_669 + 4dupTGGTAA | + |
14 | 0.07 | 0.52 | 0.3 | – | – |
15 | 0.28 | 0.00 | 0.6 | – | – |
16 | 0.03 | 0.01 | 0.01 | – | – |
17 | 0.26 | 0.42 | 1 | – | – |
18 | 0.01 | 0.01 | 0.06 | c.1538 T > c(rs778501777;p.leu513pro) | Lee et al. 2017 [7] |
19 | 0.16 | 0.00 | 0.41 | c.850 > T (p.Arg284Ter) | Zampieri 2009 [19] |
20 | 0.16 | 0.00 | 0.67 | – | – |
21 | 0.21 | 0.03 | 0.98 | – | – |
22 | 0.08 | 0.00 | 0.3 | – | – |
23 | 0.20 | 0.10 | 0.6 | – | – |
24 | 0.04 | 0.19 | 0.00 | – | – |
25 | 0.23 | 0.00 | 0.8 | – | – |