Gokmen Ozel, H2; Lammardo, A M2; Motzfeldt, K2; Robert, M2; Rocha, J C2; van Rijn, M2; Ahring, K1; Bélanger-Quintana, A2; MacDonald, A. Nicole3; Dokoupil, K2
1 Klinisk Genetisk Klinik, Juliane Marie Centre, Rigshospitalet, The Capital Region of Denmark2 unknown3 Center for Electron Nanoscopy
Seven case reports
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.
Molecular Genetics and Metabolism, 2013, Vol 108, Issue 2, p. 109-11