Table 1.
Baseline characteristics of patients
| Category | Sapropterin (N = 85) |
|---|---|
| Sex, n (%) | |
| Male | 36 (42.4) |
| Female | 49 (57.6) |
| Inpatient/outpatient status, n (%) | |
| Inpatient | 3 (3.5) |
| Outpatient | 82 (96.5) |
| Age at the start of sapropterin†, year | |
| Mean (SD) | 6.2 (8.4) |
| Median (min, max) | 3.0 (0, 33) |
| Age range categories, years, n (%) | |
| <1 | 16 (18.8) |
| ≥1–<4 | 27 (31.8) |
| ≥4–<10 | 28 (32.9) |
| ≥10–<12 | 2 (2.4) |
| ≥12–<65 | 12 (14.1) |
| ≥65 | 0 |
| Presence/absence of abnormal electroencephalogram, n (%) | |
| Not tested | 66 (77.6) |
| Absence of abnormalities | 17 (20.0) |
| Presence of abnormalities | 1 (1.2) |
| Unknown/not detected | 1 (1.2) |
| Presence/absence of abnormal MRI findings, n (%) | |
| Not tested | 63 (74.1) |
| Absence of abnormalities | 19 (22.4) |
| Presence of abnormalities‡ | 2 (2.4) |
| Unknown/not detected | 1 (1.2) |
| Complications, n (%) | |
| Absent | 69 (81.2) |
| Present | 16 (18.8) |
| Family history of HPA, n (%) | |
| Absent | 71 (83.5) |
| BH4‐responsive HPA | 12 (14.1) |
| Others§ | 2 (2.4) |
| Diet therapy (phenylalanine‐restricted diet), n (%) | |
| Absent | 21 (24.7) |
| Present | 64 (75.3) |
†Age at the start of treatment written in the section on treatment in the survey sheet.
‡One patient had hyperintensity in the deep white matter around the bilateral ventricles, hyperintensity in the genu, body, and ampulla of the corpus callosum, and hyperintensity in the subcortical white matter of the bilateral frontoparietal lobes. The second patient had white matter lesions around the lateral ventricle triangle.
§Of these two cases, the detailed diagnosis was unknown for one case. The other case was diagnosed with phenylketonuria.
BH4, tetrahydrobiopterin; HPA, hyperphenylalaninemia; MRI, magnetic resonance imaging; SD, standard deviation.