Phenylketonuria: Optimizing Therapeutic Efficacy

Transcription

1 Phenylketonuria: Optimizing Therapeutic Efficacy Expanded Reference List Abadie V, Berthelot J, Feillet F, et al. Management of phenylketonuria and hyperphenylalaninemia: the French guidelines. Arch Pediatr. 2005;12(5): Acosta PB. Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements. Eur J Pediatr. 1996;155(suppl 1):S136-S139. Acosta PB, Yannicelli S. Plasma micronutrient concentrations in infants undergoing therapy for phenylketonuria. Biol Trace Elem Res. 1999;67(1): Acosta PB, Yannicelli S, Parton P, et al. Nutrient intake and growth of infants with phenylketonuria undergoing therapy. J Pediatr Gastroenterol Nutr. 1998;27(3): Acosta PB. Ross Metabolic Formula System: Nutrition Support Protocols, 4 th Edition. Columbus, OH: Ross Laboratories; Available at Accessed March 8, Acosta PB. Protocol for Nutrition Support of Maternal PKU. Columbus, OH: Ross Laboratories; American Academy of Pediatrics. Policy statement: breastfeeding and the use of human milk. Pediatrics. 2005;115(2): Asia Pacific J Clin Nutrition. Available at Accessed March Bilginsoy C, Waitzman N, Leonard CO, Ernst SL. Living with phenylketonuria: perspectives of patients and their families. J Inherit Metab Dis. 2005;28(5): Bodoy S, Martin L, Zorzano A, Palacin M, Estevez R, Bertran J. Identification of LAT 4, a novel amino acid transporter with system L activity. J Biol Chem. 2005;280(12): Burgard P, Bremer HJ, Bührdel P, et al. Rationale for the German recommendations for phenylalanine level control in phenylketonuria Eur J Pediatr. 1999;158(1): Burton BK, Grange DK, Milanowski A, et al. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6Rtetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis. 2007;(5): Burton BK, Santwana K, Kirkpatrick P. Fresh from the pipeline: sapropterin. Nature Rev. 2008;7: Camfield CS, Joseph M, Hurley T, Campbell K, Sanderson S, Camfield PR. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J Pediatr. 2004;145(1): Page 1

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3 Kindt E, Halvorsen S. The need of essential amino acids in children. Am J Clin Nutrition. 1980;33: Koch R, Friedman E, Azen C, et al. The international collaborative study of maternal phenylketonuria: status report Eur J Pediatr. 2000;159(suppl 2):S156-S160. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med.1980:303(21): Lee P, Treacy EP, Crombez E, et al; Sapropterin Research Group. Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A. 2008;146A(22): Leuzzi V, Pansini M, Sechi E, et al. Executive function impairment in early-treated PKU subjects with normal mental development. J Inherit Metab Dis. 2004;27(2): Levy HL, Waisbren SE. PKU in adolescents: rationale and psychosocial factors in diet continuation. Acta Paediatr Suppl. 1994;407: Levy HL, Milanowski A, Chakrapani A, et al; Sapropterin Research Group. 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): Longo N, Harding CO, Burton BK, et al. A phase 1, open-label, dose-escalation study to evaluate the safety, tolerability, and pharmacokinetics of single, subcutaneous doses of ravpal-peg in subjects with phenylketonuria. Presented at European Society of Phenylketonuria and Allied Disorders Treated as Phenylketonuria. Belek, Turkey, June Longo N, Ernst SL, Viau K, Knuth M, Baily C, Botto L. Enzyme substitution therapy and other new treatments for phenylketonuria. Presented at 2 nd European Phenylketonuria Group EPG Advances and Challenges in PKU. Munich, Germany, January MacLeod EL, Gleason ST, van Calcar SC, Ney DM. Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. Mol Genet Metab. 2009;98(4): Maillot F, Lilburn M, Baudin J, Morley DW, Lee PJ. Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine. Am J Clin Nutr. 2008;88(3): Matalon KM, Acosta PB, Azen C. Role of nutrition in pregnancy with phenyletonuria and birth defects. Pediatrics. 2003;112: Matalon R, Michals-Matalon K, Bhatia G. et al. Large neutral amino acids in the treatment of phenylketonuria (PKU). J Inherit Metab Dis. 2006;29(6): Matalon R, Michals-Matalon K, Bhatia G, et al. Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J Inherit Metab Dis. 2007;(2): McCabe L, Ernest AE, Neifert MR, et al. The management of breast feeding among infants with phenylketonuria. J Inherit Metab Dis.1989:12(4): Page 3

4 Medical Research Council Working Party on Phenylketonuria. Recommendations on the dietary management of phenylketonuria. Arch Dis Child. 1993;68(3): Millner BN. Insurance coverage of special foods needed in the treatment of phenylketonuria. Public Health Rep. 1993;108(1): Moyle JJ, Fox AM, Arthur M, Bynevelt M, Burnett JR. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol Rev. 2007;17(2): Munck BG, Munck LK. Phenylalanine transport in rabbit small intestine. J Physiol. 1994;480: National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management, October 16-18, Pediatrics. 2001;108(4) Pietz J, Fätkenheuer B, Burgard P, Armbruster M, Esser G, Schmidt H. Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics. 1997;99(3): Pietz J, Kreis R, Rupp A, et al. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest. 1999;103(8): Ruch T, Kerr D. Decreased essential amino acid requirements without catabolism in phenylketonuria and maple syrup urine disease. Am J Clin Nutrition.1982;35(2): Rylance G. Outcome of early detected and early treated phenylketonuria patients. Postgrad Med J. 1989;65(supp 2):S7-S9. Sarkissian CN, Gámez A, Wang L, et al. Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. Proc Natl Acad Sci U S A. 2008;105(52): Sinai LN, Kim SC, Casey R, Pinto-Martin JA. Phenylketonuria screening: effect of early newborn discharge. Pediatrics. 1995;96(4 Pt 1): Subcommittee on the Tenth Edition of the Recommended Dietary Allowances, Food and Nutrition Board, Commission on Life Sciences, National Research Council. Recommended Dietary Allowances: 10 th Edition. Washington, DC: The National Academies Press; Trefz FK, Burton BK, Longo N, et al; Sapropterin Study Group. 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(5): van Rijn M, Bekhof J, Dijkstra T, Smit PG, Moddermam P, van Spronsen FJ. A different approach to breast-feeding of the infant with phenylketonuria. Eur J Pediatr. 2003;162(5): Van Spronsen FJ, de Groot, MJ, Joeksma M, Reijngoud, D-J, van Rijn, M. Large neutral amino acids in the treatment of PKU: from theory to practice. J Inherit Metab Dis. 2010;33(6): USDA National Nutrient Database for Standard Reference. Accessed March 1, Waisbren SE, Zaff J. Personality disorder in young women with treated phenylketonuria. J Inherit Metab Dis. 1994;17(5): Page 4

5 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. 2007;92(1-2): Waisbren S, White DA. Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic. Mol Genet Metab. 2010;99(suppl 1):S96-S99. Weglage J, Fünders B, Wilken B, et al. Psychological and social findings in adolescents with phenylketonuria. Eur J Pediatr. 1992;151(7): White DA, Nortz MJ, Mandernach T, Huntington K, Steiner RD. Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. J Int Neuropsychol Soc. 2002;8(1):1-11. Page 5