Table 1.
Subject characteristics.
| P1 | P2 | Ctrl | |
|---|---|---|---|
| Age | 28 | 18 | 59 |
| Sex | M | M | M |
| Genotype | c.1069C > T//p.Q357X | c.568delG//p.A190Pfs*2 | NA |
| FD-associated pain character | Attacks | No pain | NA |
| Cardiomyopathy | Yes | No | NA |
| Nephropathy | No | No | NA |
| FD-specific treatment | Agalsidase-β | None | NA |
| AGAL activity | 0.5 (ref.: 3.4–13.0 nmol/h/mL) |
0.04 (ref.: 0.4–1.0 nmol/min/mg/protein) |
NA |
| Lyso-Gb3 | 57.7 (ref.: <0.9 ng/mL) |
241 (ref.: <20.1 ng/mL) |
NA |
Abbreviations: A: Alanine, AGAL: α-galactosidase A, C: cytosine, c.: coding, Ctrl: healthy control, FD: Fabry disease, fs: frameshift, G: guanine, lyso-Gb3: lyso-globotriaosylceramide, M: male, NA: not applicable, P: proline, P1,2: Fabry patients, Q: glutamine, ref: reference, T: thymine, X: stop codon.