New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

References

• DonlonJLevyHScriverCRHyperphenylalaninemia: Phenylalanine hydroxylase deficiencyValleDBeaudetALVogelsteinBThe Metabolic and Molecular Bases of Inherited DiseaseNew York, NYMcGraw-Hill2008
   Google Scholar
• ThonyBAuerbachGBlauNTetrahydrobiopterin biosynthesis, regeneration and functionsBiochem J2000347Pt 111610727395
   PubMed Web of Science ®Google Scholar
• AzenCGKochRFriedmanEGIntellectual development in 12-year-old children treated for phenylketonuriaAm J Dis Child1991145135391985428
   PubMedGoogle Scholar
• National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and management, 2000 Oct 16–18Pediatrics2001108497298211581453
   PubMed Web of Science ®Google Scholar
• ThompsonAJSmithIBrentonTNeurological deterioration in young adults with phenylketonuriaLancet199033687206026051975386
   PubMed Web of Science ®Google Scholar
• PlattLDKochRHanleyWBThe international study of pregnancy outcome in women with maternal phenylketonuria: Report of a 12-year studyAm J Obstet Gynecol2000182232633310694332
   PubMed Web of Science ®Google Scholar
• KureSHouDCOhuraTTetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyJ Pediatr1999135337537810484807
   PubMed Web of Science ®Google Scholar
• LindnerMHaasDMayatepekEZschockeJBurgardPTetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotypeMol Genet Metab200173110410611350190
   PubMed Web of Science ®Google Scholar
• BerneggerCBlauNHigh frequency of tetrahydrobiopterin responsiveness among hyperphenylalaninemias: A study of 1,919 patients observed from 1988 to 2002Mol Genet Metab200277430431312468276
   PubMed Web of Science ®Google Scholar
• MuntauACRoschingerWHabichMTetrahydrobiopterin as an alternative treatment for mild phenylketonuriaN Engl J Med2002347262122213212501224
   PubMed Web of Science ®Google Scholar
• CeroneRSchiaffinoMCFantasiaARLong-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuriaMol Genet Metab200481213713914741196
   PubMed Web of Science ®Google Scholar
• ShintakuHKureSOhuraTLong-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase genePediatr Res200455342543014681498
   PubMed Web of Science ®Google Scholar
• FiegeBBonafeLBalhausenDExtended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot studyMol Genet Metab200586Suppl 1S91S9516290003
   PubMed Web of Science ®Google Scholar
• FioriLFiegeBRivaEGiovanniniMIncidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patientsMol Genet Metab200586Suppl 1S67S7416198137
   PubMed Web of Science ®Google Scholar
• HennermannJBBührerCBlauNVetterBMönchELong-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuriaMol Genet Metab200586Suppl 1S86S9016051511
   PubMed Web of Science ®Google Scholar
• MatalonRMichals-MatalonKKochRGradyJTyringSStevensRCResponse of patients with phenylketonuria in the US to tetrahydrobiopterinMol Genet Metab200586Suppl 1S17S2116143554
   PubMed Web of Science ®Google Scholar
• MitchellJJWilckenBAlexanderITetrahydrobiopterin-responsive phenylketonuria: The New South Wales experienceMol Genet Metab200586Suppl 1S81S8516091307
   PubMed Web of Science ®Google Scholar
• BlauNErlandsenHThe metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyMol Genet Metab200482210111115171997
   PubMed Web of Science ®Google Scholar
• DobrowolskiSFPeyALKochRBiochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patientsJ Inherit Metab Dis2009321102118937047
   PubMed Web of Science ®Google Scholar
• PeyALYingMCremadesNIdentification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuriaJ Clin Invest200811882858286718596920
   PubMed Web of Science ®Google Scholar
• ErlandsenHPeyALGamezACorrection of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutationsProc Natl Acad Sci U S A200410148169031690815557004
   PubMed Web of Science ®Google Scholar
• KaracicIMeiliDSarnavkaVGenotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiencyMol Genet Metab200997316517119394257
   PubMed Web of Science ®Google Scholar
• TrefzFKScheibleDGötzHFrauendienst-EggerGSignificance of genotype in tetrahydrobiopterin-responsive phenylketonuriaJ Inherit Metab Dis2009321222618956252
   PubMed Web of Science ®Google Scholar
• ZurfluhMRZschockeJLindnerMMolecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyHum Mutat200829116717517935162
   PubMed Web of Science ®Google Scholar
• FeilletFClarkeLMeliCPharmacokinetics of sapropterin in patients with phenylketonuriaClin Pharmacokinet2008471281782519026037
   PubMed Web of Science ®Google Scholar
• HardingCONeffMWildKThe fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuriaMol Genet Metab2004811525714728991
   PubMed Web of Science ®Google Scholar
• BurtonBKGrangeDKMilanowskiAThe response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): A phase II, multicentre, open-label, screening studyJ Inherit Metab Dis200730570070717846916
   PubMed Web of Science ®Google Scholar
• LevyHLMilanowskiAChakrapaniAEfficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: A phase III randomised placebo-controlled studyLancet2007370958650451017693179
   PubMed Web of Science ®Google Scholar
• LeePTreacyEPCrombezESafety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuriaAm J Med Genet A2008146A222851285918932221
   PubMed Web of Science ®Google Scholar
• TrefzFKBurtonBKLongoNEfficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: A phase III, randomized, double-blind, placebo-controlled studyJ Pediatr2009154570070719261295
   PubMed Web of Science ®Google Scholar
• KochRMoseleyKGuttlerFTetrahydrobiopterin and maternal PKUMol Genet Metab200586Suppl 1S139S14116338627
   PubMed Web of Science ®Google Scholar
• FiegeBBlauNAssessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuriaJ Pediatr2007150662763017517248
   PubMed Web of Science ®Google Scholar
• LangenbeckUClassifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemiasJ Inherit Metab Dis2008311677218210214
   PubMed Web of Science ®Google Scholar
• BlauNDefining tetrahydrobiopterin (BH4)-responsiveness in PKUJ Inherit Metab Dis20083112318327672
   PubMed Web of Science ®Google Scholar
• LevyHBurtonBCederbaumSScriverCRecommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketomuria and its use in treatmentMol Genet Metab200792428729118036498
   PubMed Web of Science ®Google Scholar
• BlauNBelanger-QuintanaADemirkolMOptimizing the use of sapropterin (BH4) in the management of phenylketonuriaMol Genet Metab200996415816319208488
   PubMed Web of Science ®Google Scholar