Table 1.
Demographic and clinical details of patients with non-potential BH4 responsiveness and False/True-positives
|
BH4 loading test: |
Non-potential BH4-responsive (n = 97) |
Potential responder (n = 80) |
||
|---|---|---|---|---|
| BH4 extension phase: | False-positive (n = 9) | True-positive (n = 58) | Other1 (n = 13) | |
| Sex |
|
|
|
|
| Male |
47 (48.5) |
6 (66.7) |
24 (41.4) |
7 (53.8) |
| Female |
50 (51.5) |
3 (33.3) |
34 (58.6) |
6 (46.2) |
| Age (years) A* |
14.7 (10.3 – 23.0) |
8.0 (6.4 – 11.9) |
12.3 (7.7 – 17.9) |
14.1 (10.4 – 19.4) |
| <12 years A** |
30 (30.9) |
7 (77.8) |
25 (43.1) |
4 (30.8) |
| ≥12 years |
67 (69.1) |
2 (22.2) |
33 (56.9) |
9 (69.2) |
| Baseline Phe (μmol/L)2B*** C* |
663 (530 – 915) |
620 (528 – 831) |
465 (358 – 555) |
485 (386 – 590) |
| Mean Phe3,4B*** C** |
494 (364 – 700) |
455 (406 – 553) |
304 (244 – 401) |
267 (239 – 407) |
| <12 years B* C** |
397 (290 – 441) |
455 (372 – 539) |
282 (227 – 400) |
274 (207 – 318) |
| ≥12 years4B*** |
564 (427 – 773) |
440, 759 (n = 2) |
332 (255 – 414) |
264 (239 – 456) |
| Phe at diagnosis5B***, C*** |
|
|
|
|
| <600 μmol/L |
3 (3.5) |
0 (0.0) |
26 (44.8) |
4 (30.8) |
| 600–1199 μmol/L |
13 (15.3) |
2 (22.2) |
26 (44.8) |
3 (23.1) |
| >1200 μmol/L | 69 (81.2) | 7 (77.8) | 6 (10.3) | 6 (46.2) |
Data are n (%) or median (interquartile range). 1 no BH4 extension phase. 2 Phe concentration at T = 0 (with Phe loading when necessary). 3 Mean Phe concentration prior to the BH4 loading test. 4 Missing in n = 14 (<30%), n = 10 (True-positives) and n = 1 (Other). 5 First Phe concentration in hospital, missing in n = 12 (<30%). A) comparing non-potential BH4-responsive and false-positive, B) comparing non-potential BH4-responsive and true-positive, C) comparing false-positive and true-positive. *P = <0.05, **P = <0.01, ***P = <0.001.