Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Trefz, Friedrich K ^a   Scheible, D ^a   Frauendienst Egger, G ^a  

^a Klinikum am Steinenberg   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; BIOPTERIN; PHENYLALANINE; SAPROPTERIN; 5,6,7,8-TETRAHYDROBIOPTERIN; DRUG DERIVATIVE; TETRAHYDROBIOPTERIN;

ADOLESCENT; ANALOGS AND DERIVATIVES; BLOOD; BODY WEIGHT; CHILD; DIET THERAPY; DOSE CALCULATION; FOLLOW UP; HUMAN; INFANT; MULTIMODALITY CANCER THERAPY; NEWBORN; PHENYLKETONURIAS; PRESCHOOL CHILD; PROTEIN RESTRICTION; TIME; TREATMENT OUTCOME; ARTICLE; PHENYLKETONURIA;

ADOLESCENT; BIOLOGICAL MARKERS; BIOPTERIN; BODY WEIGHT; CHILD; CHILD, PRESCHOOL; COMBINED MODALITY THERAPY; DIET, PROTEIN-RESTRICTED; DRUG DOSAGE CALCULATIONS; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; PHENYLALANINE; PHENYLKETONURIAS; TIME FACTORS; TREATMENT OUTCOME;

EID: 84897922518     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9058-x     Document Type: Article

References (11)

1. Bélanger-Quintana A, García MJ, Castro M et al. (2005) Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol Genet Metab 86(Suppl 1):S61-S66
2. Burgard P, Rupp A, Konecki DS, Trefz FK, Schmidt H, Lichter-Konecki U (1996) Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr 155 (Suppl 1):S11-S15
3. Burgard P, Bremer HJ, Bührdel P et al. (1999) Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 158:46-54
4. Kure S, Hou DC, Ohura T et al. (1999) Tetrahydrobiopterinresponsive phenylalanine hydroxylase deficiency. J Pediatr 135:375-378
5. Lambruschini N, Pérez-Dueñas B, Vilaseca MA et al. (2005) Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol Genet Metab 86(Suppl 1):S54-S60
6. Lee P, Treacy EP, Crombez E et al. (2008) Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet 146A:2851-2859
7. Levy HL, Milanowski A, Chakrapani A et al. (2007) Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 370:504-510
8. National Institutes of Health Consensus Development Panel (2001) National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics 108:972-982
9. Trefz FK, Scheible D, Frauendienst-Egger G, Korall H, Blau N (2005) Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Mol Genet Metab 86(Suppl 1): S75-S80
10. Trefz FK, Burton BK Longo N, Casanova MM et al. (2009) Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr 154:700-707
11. Zurflüh MR, Zschocke J, Lindner M et al. (2008) Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat 29:167-175