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Volumn 2012, Issue 12, 2012, Pages

Sapropterin dihydrochloride for phenylketonuria

Author keywords

[No Author keywords available]

Indexed keywords

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

EID: 84874152368     PISSN: None     EISSN: 1469493X     Source Type: Journal    
DOI: 10.1002/14651858.CD008005.pub3     Document Type: Review
Times cited : (10)

References (49)
  • 1
    • 56049113280 scopus 로고    scopus 로고
    • Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
    • Lee P, Treacy EP, Crombez E, Wasserstein M, Waber L, Wolff J, et al.Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. American Journal of Medical Genetics. Part A 2008; Vol. 146A, issue 22:2851-9.
    • (2008) American Journal of Medical Genetics. Part A , vol.146A , Issue.22 , pp. 2851-2859
    • Lee, P.1    Treacy, E.P.2    Crombez, E.3    Wasserstein, M.4    Waber, L.5    Wolff, J.6
  • 3
    • 34547697475 scopus 로고    scopus 로고
    • Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
    • Levy HL, Milanowski A, Chakrapani A, Cleary M, Lee P, Trefz FK, et al.Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 2007;370(9586):504-10.
    • (2007) Lancet , vol.370 , Issue.9586 , pp. 504-510
    • Levy, H.L.1    Milanowski, A.2    Chakrapani, A.3    Cleary, M.4    Lee, P.5    Trefz, F.K.6
  • 4
    • 63449107693 scopus 로고    scopus 로고
    • Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study
    • Trefz FK, Burton BK, Longo N, Casanova MM-P, Gruskin DJ, Dorenbaum A, et al.Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. Journal of Pediatrics 2009;154(5):700-7.
    • (2009) Journal of Pediatrics , vol.154 , Issue.5 , pp. 700-707
    • Trefz, F.K.1    Burton, B.K.2    Longo, N.3    Casanova, M.-P.4    Gruskin, D.J.5    Dorenbaum, A.6
  • 5
    • 85041858661 scopus 로고    scopus 로고
    • A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects
    • [accessed 19 October 2012]
    • Nwose D. A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects. www.ClinicalTrials.gov [accessed 19 October 2012].
    • Nwose, D.1
  • 6
    • 85041860188 scopus 로고    scopus 로고
    • Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria
    • [accessed 19 October 2012]. [: NCT01412437]
    • Gropmann AL. Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria. www.ClinicalTrials.gov [accessed 19 October 2012]. [: NCT01412437]
    • Gropmann, A.L.1
  • 7
    • 84924156836 scopus 로고    scopus 로고
    • Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
    • [accessed 19 October 2012]
    • Prasad S. Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients. www.ClinicalTrials.gov [accessed 19 October 2012].
    • Prasad, S.1
  • 8
    • 85041797405 scopus 로고    scopus 로고
    • Kuvan in Phenylketonuria (PKU) Patients Less Than 4 Years Old
    • [accessed 19 October 2012]
    • Vincent C. Kuvan in Phenylketonuria (PKU) Patients Less Than 4 Years Old. www.ClinicalTrials.gov [accessed 19 October 2012].
    • Vincent, C.1
  • 9
    • 34249803298 scopus 로고    scopus 로고
    • Management of phenylketonuria and hyperphenylalaninemia
    • Baulny HO, Abadie V, Feille F, Parscau L. Management of phenylketonuria and hyperphenylalaninemia. Journal of Nutrition 2007;137(6 Suppl 1):1561S-3S.
    • (2007) Journal of Nutrition , vol.137 , Issue.6 , pp. 1561S-1563S
    • Baulny, H.O.1    Abadie, V.2    Feille, F.3    Parscau, L.4
  • 10
    • 28844448239 scopus 로고    scopus 로고
    • Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin
    • Belanger-Quintana A, Garcia MJ, Castro M, Desviat LR, Perez B, Mejia B, et al.Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Molecular Genetics and Metabolism 2005;86(Suppl 1):S61-6.
    • (2005) Molecular Genetics and Metabolism , vol.86 , pp. S61-S66
    • Belanger-Quintana, A.1    Garcia, M.J.2    Castro, M.3    Desviat, L.R.4    Perez, B.5    Mejia, B.6
  • 11
    • 0036928279 scopus 로고    scopus 로고
    • High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002
    • Bernegger C, Blau N. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002. Molecular Genetics and Metabolism 2002;77(4):304-13.
    • (2002) Molecular Genetics and Metabolism , vol.77 , Issue.4 , pp. 304-313
    • Bernegger, C.1    Blau, N.2
  • 12
    • 2542429299 scopus 로고    scopus 로고
    • The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Blau N, Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Molecular Genetics and Metabolism 2004;82(2):101-11.
    • (2004) Molecular Genetics and Metabolism , vol.82 , Issue.2 , pp. 101-111
    • Blau, N.1    Erlandsen, H.2
  • 13
    • 35448951191 scopus 로고    scopus 로고
    • The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninemia: evaluation of response and subsequent treatment
    • Boveda MD, Couce ML, Castineiras DE, Cocho JA, Perez B, Ugarte M, et al.The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninemia: evaluation of response and subsequent treatment. Journal of Inherited Metabolic Disease 2007;30(5):812.
    • (2007) Journal of Inherited Metabolic Disease , vol.30 , Issue.5 , pp. 812
    • Boveda, M.D.1    Couce, M.L.2    Castineiras, D.E.3    Cocho, J.A.4    Perez, B.5    Ugarte, M.6
  • 14
    • 59749083239 scopus 로고    scopus 로고
    • Effect of BH(4) supplementation on phenylalanine tolerance
    • Burlina A, Blau N. Effect of BH(4) supplementation on phenylalanine tolerance. Journal of Inherited Metabolic Disease 2009;32(1):40-5.
    • (2009) Journal of Inherited Metabolic Disease , vol.32 , Issue.1 , pp. 40-45
    • Burlina, A.1    Blau, N.2
  • 15
    • 35248882919 scopus 로고    scopus 로고
    • The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
    • Burton BK, Grange DK, Milanowski G, Feillet F, Crombwz EA, Abadie V, et al.The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. Journal of Inherited Metabolic Disease 2007;30:700-7.
    • (2007) Journal of Inherited Metabolic Disease , vol.30 , pp. 700-707
    • Burton, B.K.1    Grange, D.K.2    Milanowski, G.3    Feillet, F.4    Crombwz, E.A.5    Abadie, V.6
  • 18
    • 0029786261 scopus 로고    scopus 로고
    • Recommendations for protein and amino acid intake in phenylketonuric patients
    • Cockburn F, Clark BJ. Recommendations for protein and amino acid intake in phenylketonuric patients. European Journal of Pediatrics 1996;155(Suppl 1):125-9.
    • (1996) European Journal of Pediatrics , vol.155 , pp. 125-129
    • Cockburn, F.1    Clark, B.J.2
  • 20
    • 10044279157 scopus 로고    scopus 로고
    • Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
    • Erlandsen H, Pey AL, Gamez A, Perez B, Desviat LR, Aguado C, et al.Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proceedings of National Academy of Science USA 2004;101(48):16903-8.
    • (2004) Proceedings of National Academy of Science USA , vol.101 , Issue.48 , pp. 16903-16908
    • Erlandsen, H.1    Pey, A.L.2    Gamez, A.3    Perez, B.4    Desviat, L.R.5    Aguado, C.6
  • 21
    • 28844468010 scopus 로고    scopus 로고
    • Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study
    • Fiege B, Bonafe L, Ballhausen D, Baumgartner M, Thony B, Meili D, et al.Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Molecular Genetics and Metabolism 2005;86(Suppl 1):S91-5.
    • (2005) Molecular Genetics and Metabolism , vol.86 , pp. S91-S95
    • Fiege, B.1    Bonafe, L.2    Ballhausen, D.3    Baumgartner, M.4    Thony, B.5    Meili, D.6
  • 22
    • 34248583457 scopus 로고    scopus 로고
    • Assessment of tetrahydrobiopterin responsiveness in phenylketonuria
    • Fiege B, Blau N. Assessment of tetrahydrobiopterin responsiveness in phenylketonuria. Journal of Pediatrics 2007;150(6):627-30.
    • (2007) Journal of Pediatrics , vol.150 , Issue.6 , pp. 627-630
    • Fiege, B.1    Blau, N.2
  • 23
    • 28844506266 scopus 로고    scopus 로고
    • Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients
    • Fiori L, Fiege B, Riva E, Giovanni M. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. Molecular Genetics and Metabolism 2005;86(Suppl 1):S67-74.
    • (2005) Molecular Genetics and Metabolism , vol.86 , pp. S67-S74
    • Fiori, L.1    Fiege, B.2    Riva, E.3    Giovanni, M.4
  • 25
    • 28844484633 scopus 로고    scopus 로고
    • Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
    • Hennermann JB, Buhrer C, Blau N, Vetter B, Monch E. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Molecular Genetics and Metabolism 2005;86(Suppl 1):S86-90.
    • (2005) Molecular Genetics and Metabolism , vol.86 , pp. S86-S90
    • Hennermann, J.B.1    Buhrer, C.2    Blau, N.3    Vetter, B.4    Monch, E.5
  • 30
    • 33645686672 scopus 로고    scopus 로고
    • The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
    • Leuzzi V, Carducci C, Carducci C, Chiarotti F, Artiola C, Giovanniello T, et al.The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. Journal of Inherited Metabolic Disease 2006;29(1):38-46.
    • (2006) Journal of Inherited Metabolic Disease , vol.29 , Issue.1 , pp. 38-46
    • Leuzzi, V.1    Carducci, C.2    Carducci, C.3    Chiarotti, F.4    Artiola, C.5    Giovanniello, T.6
  • 31
    • 0035718935 scopus 로고    scopus 로고
    • Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype
    • Lindner M, Haas D, Zschocke J, Burgard P. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Molecular Genetics and Metabolism 2001;73(1):104-6.
    • (2001) Molecular Genetics and Metabolism , vol.73 , Issue.1 , pp. 104-106
    • Lindner, M.1    Haas, D.2    Zschocke, J.3    Burgard, P.4
  • 35
    • 0027397393 scopus 로고
    • Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story
    • Medical Research Council (UK). Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. BMJ 1993;306(6870):115-9.
    • (1993) BMJ , vol.306 , Issue.6870 , pp. 115-119
  • 37
    • 0034790129 scopus 로고    scopus 로고
    • National Institutes of Health Consensus Development Conference statement: phenylketonuria: screening and management
    • National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference statement: phenylketonuria: screening and management. Pediatrics 2000;108(4):972-82.
    • (2000) Pediatrics , vol.108 , Issue.4 , pp. 972-982
  • 39
    • 0000134296 scopus 로고    scopus 로고
    • Hyperphenylalaninemia : Phenylalanine Hydroxylase Deficiency
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B editor(s).. 8th Edition. New York: McGraw-Hill
    • Scriver CR, Seymour K. Hyperphenylalaninemia : Phenylalanine Hydroxylase Deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B editor(s). The Metabolic and Molecular Bases of Disease. 8th Edition. Vol. 2, New York: McGraw-Hill, 2001:1667-724.
    • (2001) The Metabolic and Molecular Bases of Disease , vol.2 , pp. 1667-1724
    • Scriver, C.R.1    Seymour, K.2
  • 40
    • 34848850451 scopus 로고    scopus 로고
    • The PAH gene, phenylketonuria, and a paradigm shift
    • Scriver CR. The PAH gene, phenylketonuria, and a paradigm shift. Human Mutation 2007;28(9):831-45.
    • (2007) Human Mutation , vol.28 , Issue.9 , pp. 831-845
    • Scriver, C.R.1
  • 41
    • 10744221135 scopus 로고    scopus 로고
    • Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene
    • Shintaku H, Kure S, Ohura T, Okano Y, Ohwada M, Sugiyama N, et al.Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatric Research 2004;55(3):425-30.
    • (2004) Pediatric Research , vol.55 , Issue.3 , pp. 425-430
    • Shintaku, H.1    Kure, S.2    Ohura, T.3    Okano, Y.4    Ohwada, M.5    Sugiyama, N.6
  • 44
    • 0042268005 scopus 로고    scopus 로고
    • A hypothesis on the biochemical mechanism of BH(4) -responsiveness in phenylalanine hydroxylase deficiency
    • Steinfeld R, Kohlschutter A, Ullrich K, Lukacs Z. A hypothesis on the biochemical mechanism of BH(4) -responsiveness in phenylalanine hydroxylase deficiency. Amino Acids 2003;25(1):63-8.
    • (2003) Amino Acids , vol.25 , Issue.1 , pp. 63-68
    • Steinfeld, R.1    Kohlschutter, A.2    Ullrich, K.3    Lukacs, Z.4
  • 47
    • 0033450732 scopus 로고    scopus 로고
    • Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors
    • Wappner R, Cho S, Kronmal RA, Schuett V, Seashore MR. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. Pediatrics 1999;104(6):e68.
    • (1999) Pediatrics , vol.104 , Issue.6 , pp. e68
    • Wappner, R.1    Cho, S.2    Kronmal, R.A.3    Schuett, V.4    Seashore, M.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.