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

Molecular Genetics and Metabolism

Volumn 108, Issue 2, 2013, Pages 109-111

  Gokmen Ozel, H ^a   Lammardo, A M ^b   Motzfeldt, K ^c   Robert, M ^d   Rocha, J C ^e   van Rijn, M ^f   Ahring, K ^g   Belanger Quintana A ^h   MacDonald, A ⁱ   Dokoupil, K ^j  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF MILAN   (Italy)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^e UP   (Portugal)

^f UNIVERSITY OF GRONINGEN   (Netherlands)

^g Kennedy Centre   (Denmark)

^h HOSPITAL RAMÓN Y CAJAL   (Spain)

ⁱ BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^j LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

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Author keywords

Diet; Phenylalanine; Phenylketonuria; Sapropterin; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; SAPROPTERIN; TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; ARTICLE; BLOOD LEVEL; BODY MASS; BODY WEIGHT; CALORIC INTAKE; CHILD; CLINICAL ARTICLE; CONCURRENT INFECTION; DIET RESTRICTION; DIET SUPPLEMENTATION; DRUG DOSE INCREASE; DRUG USE; FEMALE; HUMAN; INFANT; LOW DRUG DOSE; MALE; PATIENT COMPLIANCE; PHENYLKETONURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN RESTRICTION; QUALITY OF LIFE; SCHOOL CHILD; WEIGHT GAIN;

ADOLESCENT; BIOPTERIN; CHILD; CHILD, PRESCHOOL; DIET, PROTEIN-RESTRICTED; FEMALE; HUMANS; INFANT; MALE; MEDICATION ADHERENCE; PHENYLALANINE; PHENYLKETONURIAS; QUALITY OF LIFE; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84872901839     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.11.012     Document Type: Article

References (6)

1. Blau N., Bélanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F.K., van Spronsen F.J. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol. Genet. Metab. 2009, 96:158-163.
2. Trefz F.K., Burton B.K., Longo N., Casanova M.M., Gruskin D.J., Dorenbaum A., Kakkis E.D., Crombez E.A., Grange D.K., Harmatz P., Lipson M.H., Milanowski A., Randolph L.M., Vockley J., Whitley C.B., Wolff J.A., Bebchuk J., Christ-Schmidt H., Hennermann J.B. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J. Pediatr. 2009, 154:700-707. Sapropterin Study Group.
3. Ahring K., Bélanger-Quintana A., Dokoupil K., Gokmen-Ozel H., Lammardo A.M., MacDonald A., Motzfeldt K., Nowacka M., Robert M., van Rijn M. Blood phenylalanine control in phenylketonuria: a survey of 10 European centres. Eur. J. Clin. Nutr. 2011, 65:275-278.
4. Nielsen J.B., Nielsen K.E., Güttler F. Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation. J. Inherit. Metab. Dis. 2010, 33:9-16.
5. Macdonald A., Ahring K., Dokoupil K., Gokmen-Ozel H., Lammardo A.M., Motzfeldt K., Robert M., Rocha J.C., van Rijn M., Bélanger-Quintana A. Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?. Br. J. Nutr. 2011, 106:175-182.
6. MacDonald A., Gökmen-Ozel H., Daly A. Changing dietary practices in phenylketonuria. Turk. J. Pediatr. 2009, 51:409-415.