TABLE 1.
Patients (total) | Classical PKU | MHPA | BH4‐sensitive PKU | Controls | P | |
---|---|---|---|---|---|---|
Number (n) | 49 | 25 | 10 | 14 | 98 | |
Gender | ||||||
Male (n) | 26 | 13 | 5 | 8 | 52 | 1.000 a |
Female (n) | 23 | 12 | 5 | 6 | 46 | |
Age (years) Median [IQR] |
9 [4.5; 14.0] |
8 [3.5; 13.5] |
8.5 [3.0; 15.3] |
11.5 [6.8; 14.3] |
10 [4.0; 13.3] |
.768 a |
BMI (kg/m 2 ) Median [IQR] |
17.7 [16.2; 19.0] |
17.1 [16.0; 18.8] |
17.4 [16.2; 20.6] |
18.3 [16.9; 19.9] |
17.9 [16.1; 19.7] |
.763 a |
WSI‐Index b Median [IQR] |
13 [10.0; 15.0] |
12 [9.0; 14.0] |
12.5 [6.0; 14.5] |
13 [11.8; 19] |
14 [11.3; 16.0] e |
.046 a |
Median mean dried blood Phe concentration (μmol/L) at study visit [IQR] |
213 [152; 398] |
306 [138; 499] |
207 [141; 212] |
224 [173; 365] |
n. a. | .233 |
Median mean dried blood Phe concentration (μmol/L) 1 year prior enrollment [IQR] |
231 [199; 437] |
250 [215; 577] |
186 [163; 213] |
261 [217; 360] |
n. a. | .003 c |
Median Phe tolerance f (mg/day) [IQR] |
450 g [339; 1000] |
400 h [260; 480] |
n. a. |
1170 i [1000; 1200] |
n. a | <.001 d |
Note: The P values in bold letters represent significant differences (P < .05).
Abbreviations: MHPA, mild hyperphenylalaninemia; n. a, not applicable; PKU, phenylketonuria.
Comparison between patients (total) vs controls, Mann‐Whitney‐U‐test.
WSI stratification Index: lower class 3‐8, middle class 9‐14, upper class 15‐21.
Comparison between patients with classical PKU vs BH4‐sensitive PKU vs MHPA, Kruskal‐Wallis‐test.
Comparison between patients with classical PKU vs BH4‐sensitive PKU, Mann‐Whitney‐U‐test.
n = 88.
Applicable for PKU patients on diet.
n = 30.
n = 23.
n = 7.