Table 3 EPP and XLP genotypes and their erythrocyte and plasma protoporphyrin (PROTO) concentrations.

EPP

   Missense/IVS3-48T>C

1,430 ± 660 (407–2,940)

25

92 ± 4 (84–97)

16

5.7 ± 6.4 (0.7–28)

17

   Splicing/IVS3-48T>C

2,170 ± 1,550^a (562–7,170)

44

94 ± 3 (86–98)

27

8.7 ± 9.9 (0.5–44)

29

   Nonsense/IVS3-48T>C

2,350 ± 1,320^b (845–5, 190)

16

95 ± 3 (87–97)

11

11.0 ± 11.8 (0.5–47)

14

   Small deletion/IVS3-48T>C

3,580 ± 2,410^c (1,060–8,240)

10

97 ± 1 (96, 97^d)

2

14.0 ± 9.8 (6.2–28)

4

   Large deletion/IVS3-48T>C

2,610 ± 1,200 (1,230–5,160)

13

95 ± 4 (84–98)

12

10.3 ± 7.7 (0.2–26)

12

   p.L265Re+IVS3-48T>C/IVS3-48T>C

7,750^e

1

1

1

   p.Q193X+IVS3-48T>C/IVS3-48T>C

926

1

92

1

11.7

1

   p.S151F/p.P344L

3,210

1

1

25.5

1

   p.R215W/p.W301Afs*22

664

1

1

1

   p.D274N/c.913G>T (splicing defect)

2,520

1

1

1

XLP

   c.1706delAGTG (FECH Wt/Wt)

5,153 ± 3,162 (2,293–10,650)

8

66 ± 8.3 (50–78)

8

11.7 ± 7.2 (5.8–23)

5

   c.1706delAGTG (FECH IVS3-48T>C/Wt)

3,891

1

75

1

4.7

1