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., ...More

MOLECULAR GENETICS AND METABOLISM, vol.108, no.2, pp.109-111, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 108 Issue: 2
  • Publication Date: 2013
  • Doi Number: 10.1016/j.ymgme.2012.11.012
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.109-111
  • Hacettepe University Affiliated: Yes


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.