| Yazarlar |
| Özet |
| The oral loading test with tetrahydrobiopterin (BH4) is used to discriminate between variants of hyperphenylalaninaemia and to detect BH4‐responsive patients. The outcome of the loading test depends on the genotype, dosage of BH4, and BH4 pharmacokinetics. A total of 71 patients with hyperphenylalaninaemia (mild to classic) were challenged with BH4 (20 mg/kg) according to different protocols (1 × 20 mg or 2 × 20 mg) and blood BH4 concentrations were measured in dried blood spots at different time points (T0, T2, T4, T8, T12, T24, T32 and T48 h). Maximal BH4 concentrations (median 22.69 nmol/g Hb) were measured 4 h after BH4 administration in 63 out of 71 patients. Eight patients presented with maximal BH4 concentrations ∼44% higher at 8 h than at 4 h. After 24 h, BH4 blood concentrations dropped to 11% of maximal values. This profile was similar using different protocols. The following ... |
| Anahtar Kelimeler |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | Uluslararası alan indekslerindeki dergilerde yayımlanan tam makale |
| Dergi Adı | Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism |
| Dergi Tarandığı Indeksler | |
| Makale Dili | İngilizce |
| Basım Tarihi | 12-2006 |
| Cilt No | 29 |
| Sayı | 6 |
| Sayfalar | 725 / 731 |
| Doi Numarası | 10.1007/s10545-006-0425-6 |
| Atıf Sayıları | |
| Google Scholar | 35 |
