Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four
Yıl: 2015 Cilt: 57 Sayı: 3 Sayfa Aralığı: 213 - 218 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022
Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four
Öz: Sapropterin enhances phenylalanine hydroxylase activity, thus lowering blood phenylalanine (Phe) concentration while increasing protein tolerance in sapropterin-responsive patients. Initiation of sapropterin treatment in responsive patients as early as possible, especially during the time when brain development is fastest, allows intake of more natural protein as well as micro- and macronutrients. Initiation of sapropterin treatment in the newborn period can make exclusive breastfeeding possible. Reports on the efficacy and safety of sapropterin in phenylketonuria (PKU) children under age four are limited in the literature. The purpose of this study is to evaluate the efficacy and safety of sapropterin treatment in infants and children with hyperphenylalaninemia (HPA) and to assess whether genotype analyses are of help in the prediction of responsiveness in these children. Clinical features as well as dietary characteristics were examined in 44 patients undergoing sapropterin treatment. Molecular genetic analysis was performed in 28 of these patients. Phe tolerance increased a median of 2.26-fold (0.88-4.23), from a median of 47.5 mg/kg/day to a median of 114 mg/kg/day (p<0.001). Phe levels could not be kept within normal limits in 5 patients, and thus treatment was stopped due to unsatisfactory metabolic control. In 9 patients, sapropterin treatment was started prior to the initiation of a Phe-restricted diet. Sapropterin treatment was found to be safe and efficacious in patients under age four. Although the BH4 loading test and molecular genetic analysis proved to be useful in detecting responsive patients, these analyses did not enable us to make predictions as to long-term responsiveness.
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
- 1. Blau N. Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert Opin Drug Metab Toxicol 2013; 9: 1207-1218.
- 2. Leuret O, Barth M, Kuster A, et al. Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria. J Inherit Metab Dis 2012; 35: 975-981.
- 3. MacDonald A, Ahring K, Dokoupil K, et al. Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? BJN 2011; 106: 175-182.
- 4. Burton BK, Adams DJ, Grange DK, et al. Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. J Pediatr 2011; 158: 410- 415.
- 5. Feillet F, van Spronsen FJ, MacDonald A, et al. Challenges and pitfalls in the management of phenylketonuria. Pediatrics 2010; 126: 333-341.
- 6. Couce ML, Bóveda MD, Valerio E, Pérez-Muñuzuri A, Fraga JM. Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years. JIMD Rep 2012; 2: 91-96.
- 7. Hennermann JB, Roloff S, Gebauer C, Vetter B, von Arnim-Baas A, Mönch E. Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders. Mol Genet Metab 2012; 107: 294-301.
- 8. Keil S, Anjema K, van Spronsen FJ, et al. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics 2013; 131: e1881-e1888.
- 9. Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH. Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Mol Genet Metab 2012; 107: 31-36.
- 10. Leuders S, Wolfgart E, Ott T, et al. Influence of PAH genotype on sapropterin response in PKU: results of a single-center cohort study. JIMD Rep 2014; 13: 101-109.
APA | Unal O, GÖKMEN ÖZEL H, coskun t, ÖZGÜL R, YÜCEL YILMAZ D, HİŞMİ B, TOKATLI A, Dursun A, SİVRİ H (2015). Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. , 213 - 218. |
Chicago | Unal Ozlem,GÖKMEN ÖZEL HÜLYA,coskun turgay,ÖZGÜL R. Köksal,YÜCEL YILMAZ DİDEM,HİŞMİ Burcu,TOKATLI Ayşegül,Dursun Ali,SİVRİ H Serap Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. (2015): 213 - 218. |
MLA | Unal Ozlem,GÖKMEN ÖZEL HÜLYA,coskun turgay,ÖZGÜL R. Köksal,YÜCEL YILMAZ DİDEM,HİŞMİ Burcu,TOKATLI Ayşegül,Dursun Ali,SİVRİ H Serap Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. , 2015, ss.213 - 218. |
AMA | Unal O,GÖKMEN ÖZEL H,coskun t,ÖZGÜL R,YÜCEL YILMAZ D,HİŞMİ B,TOKATLI A,Dursun A,SİVRİ H Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. . 2015; 213 - 218. |
Vancouver | Unal O,GÖKMEN ÖZEL H,coskun t,ÖZGÜL R,YÜCEL YILMAZ D,HİŞMİ B,TOKATLI A,Dursun A,SİVRİ H Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. . 2015; 213 - 218. |
IEEE | Unal O,GÖKMEN ÖZEL H,coskun t,ÖZGÜL R,YÜCEL YILMAZ D,HİŞMİ B,TOKATLI A,Dursun A,SİVRİ H "Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four." , ss.213 - 218, 2015. |
ISNAD | Unal, Ozlem vd. "Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four". (2015), 213-218. |
APA | Unal O, GÖKMEN ÖZEL H, coskun t, ÖZGÜL R, YÜCEL YILMAZ D, HİŞMİ B, TOKATLI A, Dursun A, SİVRİ H (2015). Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. Turkish Journal of Pediatrics, 57(3), 213 - 218. |
Chicago | Unal Ozlem,GÖKMEN ÖZEL HÜLYA,coskun turgay,ÖZGÜL R. Köksal,YÜCEL YILMAZ DİDEM,HİŞMİ Burcu,TOKATLI Ayşegül,Dursun Ali,SİVRİ H Serap Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. Turkish Journal of Pediatrics 57, no.3 (2015): 213 - 218. |
MLA | Unal Ozlem,GÖKMEN ÖZEL HÜLYA,coskun turgay,ÖZGÜL R. Köksal,YÜCEL YILMAZ DİDEM,HİŞMİ Burcu,TOKATLI Ayşegül,Dursun Ali,SİVRİ H Serap Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. Turkish Journal of Pediatrics, vol.57, no.3, 2015, ss.213 - 218. |
AMA | Unal O,GÖKMEN ÖZEL H,coskun t,ÖZGÜL R,YÜCEL YILMAZ D,HİŞMİ B,TOKATLI A,Dursun A,SİVRİ H Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. Turkish Journal of Pediatrics. 2015; 57(3): 213 - 218. |
Vancouver | Unal O,GÖKMEN ÖZEL H,coskun t,ÖZGÜL R,YÜCEL YILMAZ D,HİŞMİ B,TOKATLI A,Dursun A,SİVRİ H Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. Turkish Journal of Pediatrics. 2015; 57(3): 213 - 218. |
IEEE | Unal O,GÖKMEN ÖZEL H,coskun t,ÖZGÜL R,YÜCEL YILMAZ D,HİŞMİ B,TOKATLI A,Dursun A,SİVRİ H "Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four." Turkish Journal of Pediatrics, 57, ss.213 - 218, 2015. |
ISNAD | Unal, Ozlem vd. "Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four". Turkish Journal of Pediatrics 57/3 (2015), 213-218. |