Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose

Kor D., Yilmaz B. S., BULUT F. D., Ceylaner S., Mungan N. O.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.30, sa.7, ss.713-718, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 7
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1515/jpem-2016-0461
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.713-718
  • Anahtar Kelimeler: BH4, divided daily doses, phenylketonuria, PHENYLALANINE-HYDROXYLASE DEFICIENCY, MOUSE MODEL, DIHYDROCHLORIDE, MUTATIONS, STABILITY
  • Çukurova Üniversitesi Adresli: Evet

Özet

Background: Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made a huge difference in the diets of patients with PKU. BH4 is the co-factor of the enzyme phenylalanine hydroxylase (PAH) and improves PAH activity and, thus, Phe tolerance in the diet. A limited number of published studies suggest a pharmacodynamic profile of BH4 more suitable to be administered in divided daily doses.