Use of sapropterin in the management of phenylketonuria: Seven case reports


Ozel H. , Lammardo A. M. , Motzfeldt K., Robert M., Rocha J. C. , van Rijn M., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM, cilt.108, ss.109-111, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 108 Konu: 2
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.ymgme.2012.11.012
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM
  • Sayfa Sayıları: ss.109-111

Özet

Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering sapropterin. We present a series of seven patient cases with PKU that illustrate important aspects of using sapropterin with diet in the management of the disorder. (C) 2012 Elsevier Inc. All rights reserved.