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Table 1 Patients with Phe < 360 micromol/L during the pre-loading test protocol

From: Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

Subject (#)

PAH genotype

Historical tolerance *

Median plasma Phe

New Phe intake

(10 th -90 th centile) §

[Phe values]

3

R261Q/R158Q

400

360 (180-570)

786 [390; 376]

7

L48S/R158Q

505

246 (120-318)

1321 [264; 282]

10

R261Q/R261Q

410

204 (130-372)

817 [330; 380]

12

R261Q/P281L

410

100 (60-180)

1328 [198; 228]

13

L48S/R158Q

410

840 (300-1080)

1133 [290; 324]

14

L48S/R158Q

440

426 (200-540)

978 [300; 348]

18

L48S/R158Q

650

246 (120-360)

1342 [210; 234]

22

R261Q/IVS10nt-11G > A

345

372 (100-700)

950 [330; 360]

23

R261Q/IVS10nt-11G > A

340

336 (102-588)

660 [336; 348]

42

IVS06nt-2delA/P281L

630

336 (110-480)

850 [290; 340]

  1. Notes. *Historical tolerance (mg Phe/day) calculated at 5 years of age; §Median plasma Phe (micromol/L) calculated from Phe values of the 5 years preceding the inclusion into the study; the new Phe intake (mg Phe/day) represents the dietary Phe assigned during the pre-loading test protocol with the corresponding plasma Phe values (two determinations), reported in square brackets. In all these patients, an additional final increase of dietary Phe was made to reach Phe values ≥ 400 micromol/L as required for the BH4 loading test.