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

Ozel, HÜLYA; Lammardo, A.; Motzfeldt, K.; Robert, M.; Rocha, J.; van Rijn, M.; Ahring, K.; Belanger-Quintana, A.; MacDonald, A.; Dokoupil, K.

doi:10.1016/j.ymgme.2012.11.012

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, sa.2, ss.109-111, 2013 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 108 Sayı: 2
Basım Tarihi: 2013
Doi Numarası: 10.1016/j.ymgme.2012.11.012
Dergi Adı: MOLECULAR GENETICS AND METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.109-111
Hacettepe Üniversitesi Adresli: Evet

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.