Table 2.
Laboratory FD parameters
| 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.