Phenylketonuria

References

Key articles

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.

National Institutes of Health Consensus Development Panel. National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000. http://consensus.nih.gov/ (last accessed 16 August 2017).Full text  Abstract

Reference articles

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. National Institutes of Health Consensus Development Panel. National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000. http://consensus.nih.gov/ (last accessed 16 August 2017).Full text  Abstract

11. 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

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

13. 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

14. 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

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

16. 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

17. 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

18. 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

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

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