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

H. Gokmen Ozel, A. M. Lammardo, K. Motzfeldt, J. C. Rocha, M. van Rijn, K. Ahring, A. Belanger-Quintana, A. MacDonald*, K. Dokoupil, M. Robert

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)109-111
Number of pages3
JournalMolecular Genetics and Metabolism
Volume108
Issue number2
DOIs
Publication statusPublished - Feb-2013

Keywords

  • Tetrahydrobiopterin
  • Sapropterin
  • Phenylketonuria
  • Phenylalanine
  • Diet

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