Table 1.
Phenotype, genotype, enzyme activity, and clinical details of 50 patients with Fabry disease.
| Patient | Age | Sex | Plasmatic enzyme activity (nmol/mL/h) (in males) | Genotype | Phenotype | GI symptoms |
|---|---|---|---|---|---|---|
| 1 | 51 | M | 0,3 | A288D | Classic | Yes |
| 2 | 47 | F | c.846_847 delTC | Classic | Yes | |
| 3 | 59 | F | c.846_847 delTC | Classic | Yes | |
| 4 | 25 | F | c.846_847 delTC | Classic | Yes | |
| 5 | 21 | F | c.846_847 delTC | Classic | Yes | |
| 6 | 37 | M | 0,48 | c.846_847 delTC | Classic | Yes |
| 7 | 27 | F | C172Y | Classic | Yes | |
| 8 | 31 | M | 3,7 | C172Y | Classic | Yes |
| 9 | 34 | M | 2,8 | C172Y | Classic | Yes |
| 10 | 28 | M | 3,4 | C172Y | Classic | Yes |
| 11 | 4 | M | 2,6 | C172Y | Classic | No |
| 12 | 60 | F | C172Y | Classic | Yes | |
| 13 | 39 | M | 5,3 | C172Y | Classic | Yes |
| 14 | 47 | M | 0,9 | D165H | Classic | Yes |
| 15 | 14 | F | D165H | Classic | No | |
| 16 | 22 | M | 0,4 | Del 2b (#124-125) | Classic | No |
| 17 | 39 | M | 1,77 | E59K | Classic | No |
| 18 | 12 | F | E59K | Classic | No | |
| 19 | 16 | F | G395A | Classic | No | |
| 20 | 14 | F | G395A | Classic | No | |
| 21 | 45 | M | 1,5 | G395A | Classic | Yes |
| 22 | 8 | F | G395A | Classic | Yes | |
| 23 | 16 | F | IVS 4-1 (g->a) | Classic | Yes | |
| 24 | 40 | M | 0,8 | IVS 4-1 (g->a) | Classic | Yes |
| 25 | 10 | M | 0,7 | IVS 4-1 (g->a) | Classic | Yes |
| 26 | 18 | F | IVS 4-1 (g->a) | Classic | Yes | |
| 27 | 42 | M | 0,7 | IVS 4-1 (g->a) | Classic | No |
| 28 | 19 | F | M 51 I | Late onset | No | |
| 29 | 25 | M | 0,78 | M 51 I | Late onset | No |
| 30 | 53 | F | M 51 I | Late onset | No | |
| 31 | 50 | F | M 51 I | Late onset | No | |
| 32 | 28 | F | M42V | Classic | Yes | |
| 33 | 20 | F | M 51 I | Late onset | Yes | |
| 34 | 37 | F | N215S | Mild, cardiac variant | Yes | |
| 35 | 10 | F | N215S | Mild, cardiac variant | No | |
| 36 | 37 | F | P409S | Classic | No | |
| 37 | 40 | M | 0,9 | P409S | Classic | Yes |
| 38 | 12 | M | 1,1 | P409S | Classic | Yes |
| 39 | 34 | F | R112H | Late onset | Yes | |
| 40 | 9 | M | 0,8 | R112H | Late onset | No |
| 41 | 14 | F | R112H | Late onset | Yes | |
| 42 | 30 | M | 0,1 | R342Q | Classic | Yes |
| 43 | 69 | F | S78X | Classic | Yes | |
| 44 | 70 | F | S78X | Classic | No | |
| 45 | 26 | F | S78X | Classic | Yes | |
| 46 | 12 | F | S78X | Classic | Yes | |
| 47 | 51 | F | S78X | Classic | No | |
| 48 | 46 | M | 2,9 | W162X | Classic | Yes |
| 49 | 48 | M | 3,1 | W162X | Classic | Yes |
| 50 | 8 | M | 2,3 | W162X | Classic | Yes |