|
Patient #
|
Normal GLA activity [FI]
|
GLA mRNA expression [FI]
|
Lyso-Gb3 [ng/ml]
|
|---|
|
1*
|
2.67
|
0.88
|
0.68
|
|
2
|
3.09
|
0.87
|
1.08
|
|
3
|
0.91+
|
0.57
|
0.46
|
|
4
|
1.76
|
0.52
|
0.63
|
|
5
|
2.12
|
0.69
|
0.20
|
|
6
|
2.00
|
NA
|
0.90
|
|
7
|
2.20
|
1.20
|
0.50
|
|
8
|
1.60
|
0.76
|
0.50
|
|
9
|
2.64
|
1.00
|
0.50
|
|
10
|
1.92
|
0.63
|
0.30
|
|
11
|
0.94+
|
0.85
|
0.60
|
|
12
|
0.61+
|
0.48
|
0.90
|
|
13
|
0.88+
|
NA
|
0.60
|
|
14
|
1.48
|
0.57
|
1.12
|
|
15
|
2.84
|
0.66
|
0.40
|
- Reference values: GLA activity in leukocytes >33 nmol MU/h/mg protein; GLA activity in dried blood spots >2.5 μmol/l/h. Lyso-Gb3 plasma <2.2 ng/ml; NA: not available; FI: fold induction; FD: Fabry disease. *: index patient; +: reduced GLA activity.
