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

Muntau, Ania; Adams, Darius; Belanger-Quintana, Amaya; Bushueva, Tatiana; Cerone, Roberto; Chien, Yin-Hsiu; Chiesa, Ana; COŞKUN, TURGAY; de las Heras, Javier; Feillet, Francois; Katz, Rachel; Lagler, Florian; Piazzon, Flavia; Rohr, Fran; van Spronsen, Francjan; Vargas, Paula; Wilcox, Gisela; Bhattacharya, Kaustuv

doi:10.1016/j.ymgme.2019.04.004

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

Atıf İçin Kopyala

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-Expanded)

Yayın Türü: Makale / Derleme
Cilt numarası: 127 Sayı: 1
Basım Tarihi: 2019
Doi Numarası: 10.1016/j.ymgme.2019.04.004
Dergi Adı: MOLECULAR GENETICS AND METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1-11
Hacettepe Üniversitesi Adresli: Evet

Özet

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.