Demographical and clinical characteristics of eight male patients with Fabry disease with amenable mutations
| Number | Age (years) | GLA mutation* | Plasma lyso-Gb3 (nmol) | eGFR (mL/min/1.73 m2) | UPr-24 (mg) | ACR (g/g) |
| 1 | 25 | c.[164A>T; 170A>T] (D55V/Q57L) | 92 | 114 | 198 | 6 |
| 2 | 34 | c.6474>G (Y216C) | 128 | 119 | 400 | 16 |
| 3 | 35 | c.431G>T (G144V) | 120 | 105 | 240 | 1 |
| 4 | 45 | c.729G>C (L243F) | 109 | 102 | 161 | 2 |
| 5 | 45 | c.776C>G (P259R) | 113 | 105 | 335 | 7 |
| 6 | 45 | c.466G>A (A156T) | 218 | 74 | 247 | 4 |
| 7 | 52 | c.98A>G (D33G) | 52 | 82 | 367 | 9 |
| 8 | 60 | c.996C>G (D322E) | 82 | 41 | 918 | 34 |
*Nucleotide change (protein sequence change).
ACR, urinary albumin/creatinine ratio; eGFR, estimated glomerular filtration rate; GLA, α-galactosidase A enzyme; GL3, globotriaosylceramide; UPr-24, 24-hour urinary protein excretion.