Table 3.
Clinical and biochemical findings in North American XLP families
| Family | Sex | Peak (nm) | Plasma total porphyrins (mcg/dl) n.v.: 0–0.9 mcg/dl |
Erythrocyte protoporphyrins (mcg/dl) n.v.: 20–80 mcg/dl |
Photosensitivity from childhood | Genotype |
|---|---|---|---|---|---|---|
| E | ||||||
| Pt 7 (III.3) | M | 634 | 2.6 | 1600 (Zn50PPIX50) | Yes | c.1734delG |
| Mother (II.2) | F | no peak | 0.4 | 201 (Zn56PPIX44) | No | c.1734delG |
| Aunt (II.3) | F | no peak | 0.2 | 379 (Zn47PPIX53) | No | c.1734delG |
| F | ||||||
| Pt 8 (II.1) | M | 634 | 23.4 | 2948 (Zn34PPIX66) | Yes | c.1706-1709 delAGTG |
| Pt 9 (II.4) | M | n.d. | n.d. | n.d. | Yes | c.1706-1709 delAGTG |
| Sister (II.2) | F | n.d. | n.d. | n.d. | No | c.1706-1709 delAGTG |
| Mother (I.2) | F | 630 | 1.8 | 1112 (Zn26PPIX74) | No | c.1706-1709 delAGTG |