Patient | Age (years) | Time of diagnosis (pre-symptomatic, < 2 months, 2–6 months, > 6 months) | Phenylalanine supplementation | Median first year concentrations | Median lifetime concentrations | Median last year concentrations | |||
---|---|---|---|---|---|---|---|---|---|
Phe (μmol/L) | Tyr (μmol/L) | Phe (μmol/L) | Tyr (μmol/L) | Phe (μmol/L) | Tyr (μmol/L) | ||||
1 | 6.6 | < 2 months | No | 10 | 195.5 | 43.5 | 512.5 | 44 | 518 |
2 | 7.3 | > 6 months | Yes | – | – | – | – | 29 | 344 |
3 | 7.9 | > 6 months | No | – | – | 42 | 389 | 41 | 521.5 |
4 | 8.1 | Pre-symptomatic | No | 29.5 | 342.5 | 32.5 | 295 | 37 | 405 |
5 | 8.1 | > 6 months | No | – | – | 41 | 483.9 | 44 | 462 |
6 | 8.3 | 2–6 months | Yes | 28 | 257 | 19 | 376 | 18 | 401 |
7 | 8.8 | Pre-symptomatic | Yes | 18 | 245 | 20 | 490 | 32 | 759.5 |
8 | 9.2 | Pre-symptomatic | Yes | 26 | 281 | 21 | 457 | 39 | 514 |
9 | 9.7 | 2–6 months | No | 40 | 245 | 26 | 397 | 38 | 427 |
10 | 9.9 | 2–6 months | Yes | 16.5 | 155 | 27.8 | 370 | 45 | 572 |
11 | 10.3 | Pre-symptomatic | Yes | 18 | 180 | 22 | 330 | 52 | 506 |
12 | 10.4 | Pre-symptomatic | Yes | 18 | 280 | 31 | 370 | 60.5 | 615.5 |
13 | 10.6 | Pre-symptomatic | Yes | – | – | 21 | 259 | 26 | 349 |
14 | 12.0 | Pre-symptomatic | No | 26 | 448 | – | 518 | 30 | 477 |
15 | 12.1 | Pre-symptomatic | Yes | 24 | 286 | 22 | 286 | 46.5 | 374 |
16 | 13.4 | 2–6 months | No | 43 | 300 | 30 | 407 | – | – |
17 | 14.0 | Pre-symptomatic | No | 55 | 538 | 47 | 668.3 | 52 | 959 |
18 | 15.1 | < 2 months | Yes | 61.5 | 372 | 24.5 | 542.5 | 67 | 746 |
19 | 15.4 | Pre-symptomatic | No | 25 | 365.5 | 18 | 530.5 | 60 | 766 |
20 | 15.6 | Pre-symptomatic | No | 39 | 643 | 42.5 | 628.5 | 45.5 | 700 |
21 | 16.0 | 2–6 months | No | 22.5 | 293 | 36.5 | 398.5 | 17 | 382 |
22 | 16.5 | < 2 months | No | 24 | 366.5 | 28 | 392 | 38 | 434 |
23 | 16.9 | Pre-symptomatic | No | 41 | 361.5 | 46.3 | 713.5 | 64 | 866 |
24 | 17.7 | 2–6 months | No | 67 | 631 | 48 | 573 | 58 | 735.5 |
25 | 18.4 | Pre-symptomatic | No | 22 | 351 | 10 | 509.5 | – | – |
26 | 19.5 | Pre-symptomatic | No | 41.5 | 663.5 | 20 | 625.3 | – | – |
27 | 20.5 | < 2 months | No | – | – | – | – | 45.5 | 620.5 |
28a | 22.5 | Pre-symptomatic | No | – | – | – | – | 44 | 248 |
29b | 23.0 | 2–6 months | No | 43 | 412.5 | 44.3 | 689 | 55 | 766 |
30c | 23.3 | > 6 months | Yes | 60 | 43 | 42 | 306.8 | 45 | 280 |
31a | 23.5 | > 6 months | No | 10 | 195.5 | 44.5 | 483 | 58 | 484 |