Table 1.
Diagnostic properties of different biomarkers.
| Plasma | |||||
| Biomarkers | Clinical Performance | FD population (n) | Reference | ||
| LysoGb3 | AUC = 1 for each sex, with the best calculated cutoff for sensitivity and specificity at 34.8 ng/mL for males and 8.1 ng/mL for females to separate patients with FD from healthy individuals | Adult (69) | [87] | ||
| AUC = 1, cutoff value of 2.7 nM yielded a diagnostic sensitivity and specificity of 100% for FD patients with the late-onset N215S cardiac variant mutation | Adult (96) | [88] | |||
| AUC = 0.99, cutoff value of 0.81 ng/mL to separate male patients with FD from healthy individuals with 94.7% sensitivity and 100% specificity. | Adult (38) | [89] | |||
| AUC = 0.99, cut-off value of 0.6 ng/mL between FD patients and healthy controls with 97.1% sensitivity and 100% specificity | Adult (34) | [93] | |||
| α-Galactosidase A/LysoGb3 ratio | AUC = 1, cut-off value of 2.5 with 100% specificity and 100% sensitivity to diagnose female FD from healthy individuals. | Adult (35) | [91] | ||
| Urine | |||||
| Biomarkers | Clinical Performance | FD population (n) | Reference | ||
| Sensitivity % (Male-Female) |
Specificity % | Accuracy % | Children (54) | [79] | |
| Gb3 | 50–73 | 97 | 92 | ||
| LysoGb3 | 29–70 | 100 | |||
| LysoGb3 (−28) | 54–87 | 100 | |||
| LysoGb3 (−12) | 88–100 | 100 | |||
| LysoGb3 (−2) | 50–83 | 100 | |||
| LysoGb3 (+14) | 67–87 | 100 | |||
| LysoGb3 (+16) | 88–100 | 100 | |||
| LysoGb3 (+34) | 88–100 | 98 | |||
| LysoGb3 (+50) | 42–91 | 92 | |||