International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Muntau A. C. , Adams D. J. , Belanger-Quintana A., Bushueva T. V. , Cerone R., Chien Y., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM, cilt.127, sa.1, ss.1-11, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 127 Konu: 1
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.ymgme.2019.04.004
  • Sayfa Sayıları: ss.1-11


Phenylketonuria (PKU) is an inherited metabolic disease caused by phenylalanine hydroxylase (PAH) deficiency. As the resulting high blood phenylalanine (Phe) concentration can have detrimental effects on brain development and function, international guidelines recommend lifelong control of blood Phe concentration with dietary and/or medical therapy. Sapropterin dihydrochloride is a synthetic preparation of tetrahydrobiopterin (6R-BH4), the naturally occurring cofactor of PAH. It acts as a pharmacological chaperone, reducing blood Phe concentration and increasing dietary Phe tolerance in BH4-responsive patients with PAH deficiency. Protocols to establish responsiveness to sapropterin dihydrochloride vary widely.