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.

Use of sapropterin in the management of phenylketonuria : seven case reports / H. Ozel Gokmen, A.M. Lammardo, K. Motzfeldt, M. Robert, J.C. Rocha, M. van Rijn, K. Ahring, A. Bélanger-Quintana, A. MacDonald, K. Dokoupil. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - 108:2(2013 Feb), pp. 109-111. [10.1016/j.ymgme.2012.11.012]

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

A.M. Lammardo
Secondo
;
2013-02

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.
Diet; Phenylalanine; Phenylketonuria; Sapropterin; Tetrahydrobiopterin
Settore MED/38 - Pediatria Generale e Specialistica
Article (author)
File in questo prodotto:
File Dimensione Formato  
1-s2.0-S1096719212004416-main.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 135.33 kB
Formato Adobe PDF
135.33 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/224141
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 3
  • ???jsp.display-item.citation.isi??? 3
social impact