Table 4. Mutation and Onset in XLP Male and Female Patients.
| Age, y | Mutation | Time to First Symptom | Age at Onset, y | Baseline ePPIX, µg/dL | Metal-Free/Zinc PPIX, %/% |
|---|---|---|---|---|---|
| Male | |||||
| 20s | c.1737delG | 11-30 min | 8 | 1846 | 60/40 |
| 20s | c.1706_1709delAGTG | <10 min | 3 | 4401 | 64/36 |
| 30s | c.1706_1709delAGTG | 11-30 min | 1.5 | 2948 | 66/34 |
| 50s | c.1706_1709delAGTG | 11-30 min | 4 | 3711 | 86/14 |
| 50s | c.1706_1709delAGTG | 11-30 min | 5 | 7801 | 89/11 |
| 50s | c.1706_1709delAGTG | 11-30 min | <1 | 2293 | 59/41 |
| 50s | c.1706_1709delAGTG | 11-30 min | <1 | 1994 | NA |
| 60s | c.1706_1709delAGTG | 11-30 min | 1 | 3431 | 85/15 |
| 60s | c.1706_1709delAGTG | 11-30 min | 1 | 3437 | 73/27 |
| 60s | c.1706_1709delAGTG | <10 min | <1 | 10 650 | 78/22 |
| Female | |||||
| 20s | Q548X | 11-30 min | 2 | 5156 | 89/11 |
| 20s | Q548X | 11-30 min | 11 | 7544 | 93/7 |
| 20s | c.1706_1709delAGTG | 31-60 min | 4 | 2307 | 69/31 |
| 30s | c.1706_1709delAGTG | 31-60 min | <1 | 2350 | 70/30 |
| 30s | c.1706_1709delAGTG | <10 min | 9 | 7867 | NA |
| 30s | c.1706_1709delAGTG | >3 h | 20 | 760 | NA |
| 40s | c.1737delG | >3 h | 17 | 201 | 88/12 |
| 40s | c.1706_1709delAGTG | 11-30 min | <1 | 6260 | 86/14 |
| 50s | c.1706_1709delAGTG | <10 min | 13 | 2098 | 67/33 |
| 50s | c.1737delG | No symptoms | NA | 379 | 53/47 |
| 50s | c.1706_1709delAGTG | 1-3 h | 40 | 1420 | 69/31 |
| 50s | c.1706_1709delAGTG | 11-30 min | 10 | 2800 | 79/21 |
Abbreviations: ePPIX, erythrocyte protoporphyrin; NA, not available; XLP, X-linked protoporphyria.
SI conversion factor: To convert protoporphyrin to µmol/L, multiply values by 0.0178.