Table 1.
The Summary of Mutation Analysis in Patients With Consistently Low α-Gal A Activity
| Male Patients With Stroke |
α-Gal A Activity† | Mutation Analysis |
|
|---|---|---|---|
| Initial Assay‡ | Confirmatory Assay‡ | ||
| 1 | 2.08 | 1.00 | A143T |
| 2 | 4.62 | 6.80 | WT* |
| 3 | 2.84 | 3.09 | WT |
| 4 | 2.03 | 2.23 | WT |
| 5 | 0.71 | 0.36 | D313Y |
| 6 | 2.94 | 3.20 | WT |
| 7 | 4.06 | 2.69 | WT |
| 8 | 1.01 | 1.66 | WT |
| 9 | 3.04 | 1.67 | WT |
| 10 | 3.75 | 3.50 | WT |
*
Wild type.
†
nmol/hr/mL protein; normal mean±SD: 15.6 nmol/hr/mL protein; normal mean=same for all patients.
‡
All values are means of duplicate enzyme assays.