Phenylketonuria

National Institutes of Health Consensus Development Panel. National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000 [internet publication].Full text

Mitchell JJ, Scriver CR. Phenylalanine hydroxylase deficiency. In: Pagon RA, Bird TC, Dolan CR, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2000.Full text  Abstract

Scriver CR, Kaufman S. The hyperphenylalaninemias: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly SW, et al, eds; Childs B, Kinzler KW, Vogelstein B, assoc eds. The metabolic and molecular bases of inherited disease. 8th ed. New York, NY: McGraw-Hill; 2001:1667-1724.

1. National Institutes of Health Consensus Development Panel. National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000 [internet publication].Full text

2. Mitchell JJ, Scriver CR. Phenylalanine hydroxylase deficiency. In: Pagon RA, Bird TC, Dolan CR, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2000.Full text  Abstract

3. Scriver CR, Kaufman S. The hyperphenylalaninemias: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly SW, et al, eds; Childs B, Kinzler KW, Vogelstein B, assoc eds. The metabolic and molecular bases of inherited disease. 8th ed. New York, NY: McGraw-Hill; 2001:1667-1724.

4. Burton BK, Adams DJ, Grange DK, et al. Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. J Pediatr. 2011 Mar;158(3):410-5. Abstract

5. 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. 2007 Oct;30(5):700-7. Abstract

6. Fiege B, Blau N. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J Pediatr. 2007 Jun;150(6):627-30. Abstract

7. Enns GM, Koch R, Brumm V, et al. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab. 2010 Oct-Nov;101(2-3):99-109. Abstract

8. Levy H, Burton B, Cederbaum S, et al. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment. Mol Genet Metab. 2007 Dec;92(4):287-91. Abstract

9. Blau N, Thony B, Cotton RG, et al. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly SW, et al, eds; Childs B, Kinzler KW, Vogelstein B, assoc eds. The metabolic and molecular bases of inherited disease. 8th ed. New York, NY: McGraw-Hill; 2001:1725-76.

10. Guldberg P, Rey F, Zschocke J, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet. 1998;63:71-79. [Erratum in: Am J Hum Genet. 1998;63:1252-1253.]Full text  Abstract

11. Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16:188-200.Full text  Abstract

12. van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017 Oct 12;12(1):162.Full text  Abstract

13. Abadie V, Berthelot J, Feillet F, et al. Management of phenylketonuria and hyperphenylalaninemia: the French guidelines [in French]. Arch Pediatr. 2005 May;12(5):594-601. Abstract

14. Sarkissian CN, Gamez 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 Dec 30;105(52):20894-9.Full text  Abstract

15. Hydery T, Coppenrath VA. A comprehensive review of pegvaliase, an enzyme substitution therapy for the treatment of phenylketonuria. Drug Target Insights. 2019;13:1177392819857089.Full text  Abstract

16. 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 Apr;103(8):1169-78.Full text  Abstract

17. 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 Apr;30(2):153-8. Abstract

18. Somaraju UR, Merrin M. Sapropterin dihydrochloride for phenylketonuria. Cochrane Database Syst Rev. 2015;(3):CD008005.Full text  Abstract

19. Harding C. Progress toward cell-directed therapy for phenylketonuria. Clin Genet. 2008 Aug;74(2):97-104.Full text  Abstract

20. Pey AL, Ying M, Cremades N, et al. Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. J Clin Invest. 2008 Aug;118(8):2858-67.Full text  Abstract

21. Christ SE, Huijbregts SC, de Sonneville LM, et al. Executive function in early-treated phenylketounuria: profile and underlying mechanisms. Mol Genet Metab. 2010;99(suppl 1):S22-32. Abstract

22. Arnold G, Vladutiu CJ, Orlowski CC, et al. Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria. J Inherit Metab Dis. 2004;27(2):137-43. Abstract

23. Smith I, Knowles J. Behaviour in early treated phenylketonuria: a systematic review. Eur J Pediatr. 2000 Oct;159(suppl 2):S89-93. Abstract

24. Zeman J, Bayer M, Stepan J. Bone mineral density in patients with phenylketonuria. Acta Paediatr. 1999 Dec;88(12):1348-51. Abstract

25. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of treated and untreated pregnancies. N Engl J Med. 1980 Nov 20;303(21):1202-8. Abstract

26. Prick BW, Hop WC, Duvekot JJ. Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. Am J Clin Nutr. 2012 Feb;95(2):374-82. Abstract