title: Use of sapropterin in the management of phenylketonuria: seven case reports.
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.
authors.affiliation: Department of Nutrition and Dietetics, Hacettepe University, Ankara, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Gokmen Ozel
authors.forename: A M
authors.initials: AM
authors.lastname: Lammardo
authors.forename: K
authors.initials: K
authors.lastname: Motzfeldt
authors.forename: M
authors.initials: M
authors.lastname: Robert
authors.forename: J C
authors.initials: JC
authors.lastname: Rocha
authors.forename: M
authors.initials: M
authors.lastname: van Rijn
authors.forename: K
authors.initials: K
authors.lastname: Ahring
authors.forename: A
authors.initials: A
authors.lastname: Bélanger-Quintana
authors.forename: A
authors.initials: A
authors.lastname: MacDonald
authors.forename: K
authors.initials: K
authors.lastname: Dokoupil
mesh_terms: D000293:Adolescent; D001708:Biopterins / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D055118:Medication Adherence; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000178:diet therapy / Q000188:drug therapy*; D011788:Quality of Life; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin