Table 1.
Patients baseline characteristics.
| Sapropterin-Responsive Patients (n = 17) | ||
|---|---|---|
| Male (n, %) | 11 (65%) | |
| Female (n, %) | 6 (35%) | |
| Age (mean ± SD) | 10.8 ± 4.2 | |
| <6 years | n = 2 | |
| 6–12 years | n = 10 | |
| >12 years | n = 5 | |
| Genetic mutations (n, %) | ||
| Classical PKU (cPKU) | 5 (29%) | |
| Moderate PKU (mPKU) | 8 (47%) | |
| Mild PKU (HPA) | 2 (12%) | |
| DHPR Deficiency | 2 (12%) | |
| Sapropterin dosing (median [P25–P75]) | ||
| Sapropterin (mg/kg) | 20 [10–20] | |
| Blood Phe control (median [P25–P75]) | ||
| Blood Phe (µmol/L) | 258 [231–398] | |
| Natural protein and protein equivalent intake (median [P25–P75]) | ||
| Natural Protein (g/day) | 11 [9–14] | |
| Protein equivalent from protein substitute (g/day) | 60 [57–60] | |
| Anthropometrics (mean ± SD) | ||
| ≤10 years old (n = 9) | >10 years old (n = 8) | |
| Weight z-score | 0.87 ± 1.55 | 0.49 ± 1.36 |
| Height z-score | 0.37 ± 0.69 | 0.05 ± 0.96 |
| BMI z-score | 0.88 ± 1.76 | 0.57 ± 1.19 |
(n, %; Mean ± SD; Median [P25–P75]).