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Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency

Pages 483-494 | Published online: 10 Jan 2014

References

  • Blau N, Belanger-Quintana A, Demirkol M et al. Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol. Genet. Metab.96(4), 158–163 (2009).
  • Scriver CR. The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat.28(9), 831–845 (2007).
  • Guttler F, Guldberg P. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia. Acta Paediatr. Suppl.407, 49–56 (1994).
  • Feillet F, van Spronsen FJ, Macdonald A et al. Challenges and pitfalls in the management of phenylketonuria. Pediatrics (2010) (In press).
  • Lindner M. Treatment of phenylketonuria variants: European recommendations. In: PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Blau N (Ed.). SPS Verlagsgesellschaft mbH, Heilbronn, Germany 180–187 (2006).
  • Huttenlocher PR. The neuropathology of phenylketonuria: human and animal studies. Eur. J. Pediatr.159(Suppl. 2), S102–S106 (2000).
  • NIH. National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16–18, 2000. Pediatrics108(4), 972–982 (2001).
  • Hegge KA, Horning KK, Peitz GJ, Hegge K. Sapropterin: a new therapeutic agent for phenylketonuria. Ann. Pharmacother.43(9), 1466–1473 (2009).
  • Scriver CR, Kaufman S. Hyperphenylalanemia: phenylalanine hydroxylase deficiency. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D (Eds). McGraw-Hill, NY, USA 1667–1709 (2001).
  • Arnold GL, Vladutiu CJ, Orlowski CC, Blakely EM, DeLuca J. Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria. J. Inherit. Metab. Dis.27(2), 131–143 (2004).
  • Gassio R, Fuste E, Lopez-Sala A, Artuch R, Vilaseca MA, Campistol J. School performance in early and continuously treated phenylketonuria. Pediatr. Neurol.33(4), 267–271 (2005).
  • Waisbren SE, Noel K, Fahrbach K et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol. Genet. Metab.92(1–2), 63–70 (2007).
  • White DA, Tabor Connor L, Nardos B et al. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol. Genet. Metab.99(Suppl. 1), S41–S46 (2010).
  • Hoeks MP, den Heijer M, Janssen MC. Adult issues in phenylketonuria. Neth. J. Med.67(1), 2–7 (2009).
  • Loeber JG. Neonatal screening in Europe; the situation in 2004. J. Inherit. Metab. Dis.30(4), 430–438 (2007).
  • O’Neill CA, Eisensmith RC, Croke DT, Naughten ER, Cahalane SF, Woo SL. Molecular analysis of PKU in Ireland. Acta Paediatr. Suppl.407, 41–44 (1994).
  • Ozalp I, Coskun T, Tokatli A et al. Newborn PKU screening in Turkey: at present and organization for future. Turk. J. Pediatr.41(2), 97–101 (2001).
  • Abu Shahla AN, Abed Y, Abu Shahla NK. Screening programme for phenylketonuria in the Gaza Strip: evaluation and recommendations. J. Trop. Pediatr.50(2), 101–105 (2004).
  • Guldberg P, Henriksen KF, Sipila I, Guttler F, de la Chapelle A. Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. J. Med. Genet.32(12), 976–978 (1995).
  • Giovannini M, Verduci E, Salvatici E, Fiori L, Riva E. Phenylketonuria: dietary and therapeutic challenges. J. Inherit. Metab. Dis.30(2), 145–152 (2007).
  • Abadie V, Berthelot J, Feillet F et al. Management of phenylketonuria and hyperphenylalaninemia: the French guidelines. Arch. Pediatr.12(5), 594–601 (2005).
  • Bremer H, Buhrdel P, Burgard P et al. Therapie von patienten mit phenylkentonuria. Empfehlungen der Arbeitsgemeinschaft für pädiatrische stoffwechselstörungen (in German). Monatsschr. Kinderheilkd.145, 961–962 (1997).
  • Burgard P, Bremer HJ, Buhrdel P et al. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur. J. Pediatr.158(1), 46–54 (1999).
  • UK MRC. Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch. Dis. Child.68, 426–427 (1993).
  • Walter JH, White FJ, Hall SK et al. How practical are recommendations for dietary control in phenylketonuria? Lancet360(9326), 55–57 (2002).
  • Koch R, Burton B, Hoganson G et al. Phenylketonuria in adulthood: a collaborative study. J. Inherit. Metab. Dis.25(5), 333–346 (2002).
  • Acosta PB, Yannicelli S, Singh RH, Elsas LJ, Mofidi S, Steiner RD. Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. Genet. Med.6(2), 96–101 (2004).
  • Koletzko B, Sauerwald T, Demmelmair H et al. Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial. J. Inherit. Metab. Dis.30(3), 326–332 (2007).
  • Przyrembel H, Bremer HJ. Nutrition, physical growth, and bone density in treated phenylketonuria. Eur. J. Pediatr.159(Suppl. 2), S129–S135 (2000).
  • Acosta PB, Yannicelli S, Singh R et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. J. Am. Diet. Assoc.103(9), 1167–1173 (2003).
  • Modan-Moses D, Vered I, Schwartz G et al. Peak bone mass in patients with phenylketonuria. J. Inherit. Metab. Dis.30(2), 202–208 (2007).
  • Kure S, Hou DC, Ohura T et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J. Pediatr.135(3), 375–378 (1999).
  • Fiege B, Blau N. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J. Pediatr.150(6), 627–630 (2007).
  • LaClair CE, Ney DM, MacLeod EL, Etzel MR. Purification and use of glycomacropeptide for nutritional management of phenylketonuria. J. Food Sci.74(4), E199–E206 (2009).
  • Matalon R, Surendran S, Matalon KM et al. Future role of large neutral amino acids in transport of phenylalanine into the brain. Pediatrics112(6 Pt 2), 1570–1574 (2003).
  • Sarkissian CN, Shao Z, Blain F et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc. Natl Acad. Sci. USA96(5), 2339–2344 (1999).
  • Ding Z, Harding C, Rebuffat A, Elzaouk L, Wolff J, Thony B. Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system. Mol. Ther.16(4), 673–681 (2008).
  • Harding C. Progress toward cell-directed therapy for phenylketonuria. Clin. Genet.74(2), 97–104 (2008).
  • Yildirim S, Tokatli A, Yilmaz E, Coskun T. Assessment of tetrahydrobiopterin responsiveness in Turkish hyperphenylalaninemic patients. Turk. J. Pediatr.49(1), 1–6 (2007).
  • Zurfluh MR, Zschocke J, Lindner M et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum. Mutat.29(1), 167–175 (2008).
  • Burton BK, Grange DK, Milanowski A 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. J. Inherit. Metab. Dis.30(5), 700–707 (2007).
  • Karacić I, Meili D, Sarnavka V et al. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Mol. Genet. Metab.97(3), 165–171 (2009).
  • Thony B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum. Mutat.27(9), 870–878 (2006).
  • Blau N, Bonafe L, Blaskovics M. Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Blau N, Duran M, Blaskovics M, Gibson KM (Eds). Springer, Heidelberg, Germany 89–106 (2005).
  • Blau N, Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol. Genet. Metab.82(2), 101–111 (2004).
  • Pey AL, Perez B, Desviat LR et al. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum. Mutat.24(5), 388–399 (2004).
  • Gersting SW, Kemter KF, Staudigl M et al. Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. Am. J. Hum. Genet.83(1), 5–17 (2008).
  • Erlandsen H, Pey AL, Gamez A et al. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc. Natl. Acad. Sci. USA101(48), 16903–16908 (2004).
  • Hayashi T, Ogata A, Takeshisha M et al. Studies on the metabolism and disposition of sapropterin hydrochloride (SUN 0588) l-erythro-tetrahydrobiopterin hydrochloride in rats. Kisho to Rinsho (Basic and Clinical Medicine)26(8), 1–31 (1992).
  • Feillet F, Clarke L, Meli C et al. Pharmacokinetics of sapropterin in patients with phenylketonuria. Clin. Pharmacokinet.47(12), 817–825 (2008).
  • Fiege B, Ballhausen D, Kierat L et al. Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. Mol. Genet. Metab.81(1), 45–51 (2004).
  • Shintaku H, Kure S, Ohura T et al. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatr. Res.55(3), 425–430 (2004).
  • Levy HL, Milanowski A, Chakrapani A 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. Lancet370(9586), 504–510 (2007).
  • Musson DG, Kramer WG, Foehr E et al. Relative bioavailability of sapropterin from intact and dissolved sapropterin dihydrochloride tablets and the effects of food: a randomized, open-label, crossover study in healthy adults. Clin. Ther.32(2), 338–346 (2010).
  • Kuster T, Matasovic A, Niederwieser A. Application of gas chromatography-mass spectrometry to the study of biopterin metabolism in man. Detection of biolumazine and 2´-deoxysepialumazine. J. Chromatogr.290, 303–310 (1984).
  • Niederwieser A, Matasovic A, Kuster T, Staudenmann W, Pfleiderer W, Scheibenreiter S. Catabolism of tetrahydrobiopterin in man. In: Chemistry and Biology of Pteridines. Cooper BA, Whitehead VM (Eds). Walter de Gruyter, Berlin, Germany 305–308 (1986).
  • Hoshiga M, Hatakeyama K, Watanabe M, Shimada M, Kagamiyama H. Autoradiographic distribution of [14C tetrahydrobiopterin and its developmental change in mice. J. Pharmacol. Exp. Ther.267(2), 971–978 (1993).
  • Nielsen JB, Nielsen KE, Guttler F. Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation. J. Inherit. Metab. Dis.33(1), 9–16 (2010).
  • Wasserstein M, Burton B, Cederbaum S et al. Results of a Phase II, multicenter, open-label study of sapropterin dihydrochloride in subjects with hyperphenylalaninemia related to primary BH4 deficiency. Presented at: The Annual Meeting of the American Society for Human Genetics (ASHG), 2008. PA, USA, 11–15 November 2008.
  • Lee P, Treacy EP, Crombez E et al. Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am. J. Med. Genet. A146A(22), 2851–2859 (2008).
  • Trefz FK, Burton BK, Longo N et al. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a Phase III, randomized, double-blind, placebo-controlled study. J. Pediatr.154(5), 700–707 (2009).
  • Fernhoff PM, Burton B, Nowacka M, Hennerman J, Kakkis ED, Dorenbaum A. PKU 008: a long-term, open-label study of sapropterin dihydrochloride (Kuvan®) in PKU subjects. Presented at: The American College of Medical Genetics Annual Meeting. FL, USA, 25–29 March 2009.
  • Champigneulle A, Gasteyger C, Bettiol E, Villemagne H, Nespithal K, Bassett R. The Kuvan® Adult Maternal Pediatric European Registry (KAMPER): a long-term observational study of patients with hyperphenylalaninemia treated with Kuvan®. Presented at: The 11th International Congress on Inborn Errors of Metabolism. CA, USA, 29 August–2 September 2009 (Abstract 195).
  • Kurczynski T, Nicely H, Wuebbels B, Reilly D, Pallansch P. Long-Term observations of PKU patients treated with Kuvan®: an introduction to the PKUDOS registry; and its subregistry PKU MOMS for pregnant or nursing PKU patients [abstract]. Presented at: The American College of Medical Genetics Annual Meeting. FL, USA, 25–29 March 2009.
  • Asubio. Asubio Pharma Company. Press release (2008).
  • Blau N, Belanger-Quintana A, Demirkol M et al. Management of phenylketonuria in Europe: Survey results from 19 countries. Mol. Genet. Metab.99(2), 109–115 (2009).
  • Blau N. Defining tetrahydrobiopterin (BH4)-responsiveness in PKU. J. Inherit. Metab. Dis.31(1), 2–3 (2008).
  • Levy H, Burton B, Cederbaum S, Scriver C. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Mol. Genet. Metab.92(4), 287–291 (2007).
  • Muntau AC, Röschinger W, Habich M et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N. Engl. J. Med.347, 2122–2132 (2002).
  • Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. Metabolism59, 645–652 (2009).

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