Biochemical and genetic abnormalities in patients with EPP
| Subject . | Age . | Photosensitivity . | Erythrocyte protoporphyrin*(μg/dL) . | FECH mutation . | FECH mutation . |
|---|---|---|---|---|---|
| Family I | |||||
| Index patient | 10 | + | 491 | G1217 → A | C406Y |
| Sister | 14 | + | 775 | ||
| Uncle | 43 | + | 46 | ||
| Patient II | 53 | + | 2744 | G1217 → C | C406S |
| Family III | Triple mutation | ||||
| Index patient | 35 | + | 711 | T1224 → A/ | N408K/ |
| Brother | 28 | + | 470 | C1225 → T/ | P409S/ |
| Daughter | 6 | − | ND | T1231 → G | C411G |
| Father | 59 | − | ND |
| Subject . | Age . | Photosensitivity . | Erythrocyte protoporphyrin*(μg/dL) . | FECH mutation . | FECH mutation . |
|---|---|---|---|---|---|
| Family I | |||||
| Index patient | 10 | + | 491 | G1217 → A | C406Y |
| Sister | 14 | + | 775 | ||
| Uncle | 43 | + | 46 | ||
| Patient II | 53 | + | 2744 | G1217 → C | C406S |
| Family III | Triple mutation | ||||
| Index patient | 35 | + | 711 | T1224 → A/ | N408K/ |
| Brother | 28 | + | 470 | C1225 → T/ | P409S/ |
| Daughter | 6 | − | ND | T1231 → G | C411G |
| Father | 59 | − | ND |
The normal range for erythrocyte protoporphyrin concentration is 1-10 μg/dL.
ND indicates not determined.