PKU.com
Forgot User ID
or Password?
User Name Password
PKU.com
Locate a Clinic PKU Glossary References For Physicians/Clinicians
About PKU
Living With PKU
Personal Stories
PKU in the News
Discussion Forum
My PKU.com

References


  1. Pietz J, Fatkenheuer B, Burgard P, Armbruster M, Esser G, Schmidt H. Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics. 1997;99(3):345-350.
  2. Waisbren SE, Levy HL. Agoraphobia in phenylketonuria. J Inherit Metab Dis. 1991;14(5):755-764.
  3. Koch R, Guttler F, Blau N. Mental illness in mild PKU responds to biopterin. Mol Genet Metab. 2002;75(3):284-286.
  4. Antshel KM, Waisbren SE. Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression. J Abnorm Child Psychol. 2003;31(6):565-574.
  5. Sergeant JA, Geurts H, Huijbregts S, Scheres A, Oosterlaan J. The top and bottom of ADHD: a neuropsychological perspective. Neurosci Biobehav Rev. 2003;27(7):583-592.
  6. Shulkin BL, Betz AL, Koeppe RA, Agranoff BW. Inhibition of neutral amino acid transport across the human blood–brain barrier by phenylalanine. J Neurochem. 1995;64(3):1252–1257.
  7. Clark JT, Gates RD, Hogan SE, Barrett M, MacDonald GW. Neuropsychological studies on adolescents with phenylketonuria returned to phenylalanine-restricted diets. Am J Ment Retard. 1987;92(3):255-262.
  8. Huijbregts S, de Sonneville L, Licht R, Sergeant J, van Spronsen F. Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria. Dev Neuropsychol. 2002;22(2):481-499.
  9. Feldmann R, Denecke J, Pietsch M, Grenzebach M, Weglage J. Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics. Pediatr Res. 2002;51(6):761-765.
  10. Phillips MD, McGraw P, Lowe MJ, Mathews VP, Hainline BE. Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria. Am J Neuroradiol. 2001;22(8):1583-1586.
  11. Moller HE, Vermathen P, Lentschig MG, et al. Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria. Pediatrics. 2003;112:1580-1583.
  12. National Institutes of Health. Phenylketonuria (PKU): Screening and Management. NIH Consensus Statement 2000 October 16-18;17(3):1-33. Available at: http://consensus.nih.gov/2000/2000Phenylketonuria113Program.pdf. Accessed March 7, 2006.
  13. 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):1169-1178.
  14. Walter JH, White FJ, Hall SK, et al. How practical are recommendations for dietary control in phenylketonuria? Lancet. 2002;360(9326):55-57.
  15. Course information, University of Illinios at Chicago. Available at: http://www.uic.edu/classes/phar/phar332/Clinical_Cases/aa%20metab%20cases/PKU%20Cases/
    PKU%20biochem%20intro.htm    . Accessed February 3, 2006.
  16. Mitchell J, Scriver CR. Phenylalanine Hydroxylase Deficiency. Funded by the National Institutes of Health. Developed at the University of Washington, Seattle. Available at: http://www.genetests.org/query?dz=pku. Accessed February 3, 2006.
  17. Fusettia F, Erlandsen H, Flatmark T, Stevens RC. Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. J Biol Chem. 1998;273(27):16962-16967.
  18. Moller EH, Weglage J, Wiedermann D, Ullrich K. Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria. J Cereb Blood Flow Metab. 1998;18(11):1184-1191.
  19. Matalon R, Surendran S, Matalon KM, et al. Future role of large neutral amino acids in transport of phenylalanine into the brain. Pediatrics. 2003;112:1570-1574.
  20. Noel K, Fahrbach K, Frame D, Cella C, Sercus B. Phenylalanine levels and clinical outcomes in phenylketonuria: a systematic review and meta-analysis. Metaworks Inc., sponsored by BioMarin Pharmaceutical Inc. 2004;1-48.
  21. Koch R. Issues in newborn screening for phenylketonuria. Am Fam Physician. 1999;60(5):1462-1466.
  22. Moats RA, Moseley KD, Koch R, Nelson M Jr. Brain phenylalanine concentration in phenylketonuria: research and treatment of adults. Pediatrics. 2003;112:1575-1579.
  23. Centerwall SA, Centerwall WR. The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist. Pediatrics. 2000;105:89-103.
  24. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963;32;338-343.
  25. New technique adds precision and permanence to gene therapy. Available at: http://www.brightsurf.com/news/headlines/view.article.php?ArticleID=21337. Accessed February 27, 2006.
  26. Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr. 1995;127(2):251-255.
  27. Scriver CR, Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AR, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:1667-1724.
  28. Güttler F, Azen C, Guldberg P, et al. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics. 2003;112:1530-1533.
  29. Koch R. Maternal phenylketonuria: the importance of early control during pregnancy. Arch Dis Child. 2005;90:114-115.
  30. Lee PJ, Ridout D, Walter JH, Cockburn F. Maternal phenylketonuria: report from the United Kingdom Registry 1978–97. Arch Dis Child. 2005;90:143-146.
  31. London RS, Rorick JT Jr. Safety evaluation in pregnancy. In: Tschanz C, Butchko HH, Stargel WW, Kotsonis FN, eds. The Clinical Evaluation of a Food Additive: Assessment of Aspartame. Boca Raton, FL: CRC Press LLC; 1996:115-124.
  32. A.D.A.M. Medical Encyclopedia (Internet). Medical Encyclopedia: Phenylketonuria. Atlanta, GA: A.D.A.M., Inc. Available at: http://www.nlm.nih.gov/medlineplus/print/ency/article/001166.htm. Accessed February 9, 2007.
  33. Weglage J, Ullrich K, Pietsch M, et al. Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome. Eur J Pediatr. 1996;155:S26-S28.
  34. Blau N, Bonafé L, Blaskovics ME. Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Blau N, Duran M, Blaskovics ME, Gibson KM, eds. Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd ed. Heidelberg, Germany: Springer-Verlag; 2003:89-106.
  35. National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management, October 16-18, 2000. Pediatrics. 2001;108:972-982.
  36. Welsh MC, Pennington BF, Ozonoff S, Rouse B, McCabe ERB. Neuropsychology of early-treated phenylketonuria: specific executive function deficits. Child Dev. 1990;61:1697-1713.
  37. Leuzzi V, Tosetti M, Montanaro D, et al. The pathogenesis of the white matter abnormalities in phenylketonuria: a multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J Inherit Metab Dis. 2007. DOI: 10:1007/s10545-006-0399-4.
  38. Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic review and meta-analysis. Mol Genet Metab. doi:10.1016/j.ymgme.2007.05.006.
  39. Pietz J. Neurological aspects of adult phenylketonuria. Curr Opin Neurol. 1998;11:679-688.
  40. Pérez-Dueñas B, Pujol J, Soriano-Mas C, et al. Global and regional volume changes in the brains of patients with phenylketonuria. Neurology. 2006;66:1074-1078.
  41. Wappner R, Cho S, Kronmal RA, Schuett V, Seashore MR. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. Pediatrics. 1999;104:e68. Available at: http://www.pediatrics.org/cgi/content/full/104/6/e68. Accessed July 6, 2005.
  42. Diamond A, Prevor MB, Callender G, Druin DP. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr Soc Res Child Dev. 1997;62:1-208.
  43. White DA, Nortz MJ, Mandernach T, Huntington K, Steiner RD. Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. J Inter Neuropsychol Society. 2002;8:1-11.
  44. MacDonald A. Diet and compliance in phenylketonuria. Eur J Pediatr. 2000;159:S136-S141.
  45. Koch R, Azen C, Friedman EG, Fischler K. Baumann-Frischling, Lin T. Care of the adult with phenylketonuria. Eur J Pediatr. 1996;155;S90-S92.
  46. MacDonald A, Harris G, Rylance G, Asplin DA, Booth IW. Abnormal feeding behaviours in phenylketonuria. J Hum Nutr Diet. 1997;10:163-170.
  47. Hennermann JB, Bührer C, Blau N, Vetter B, Mönch E. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol Genet Metab. 2005;86:S86-S90.
  48. Trefz FK, Scheible D, Frauendienst-Egger G, Korall H, Blau N. Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Mol Genet Metab. 2005;86:S75-S80.
  49. Landolt MA, Nuoffer JM, Steinmann B, Superti-Furga A. Quality of life and psychosocial adjustment in children and adolescents with early treated phenylketonuria can be normal. J Pediatr. 2002;140:516-521.
  50. Przyrembel H, Bremer HJ. Nutrition, physical growth, and bone density in treated phenylketonuria. Eur J Pediatr. 2000;159:S129-S135.
  51. Schulz B, Bremer HJ. Nutrient intake and food consumption of adolescents and young adults with phenylketonuria. Acta Paediatr. 1995;84:743-748.
  52. Schulpis KH, Karakonstantakis T, Barzeliotou A, Karikas GA, Papassotiriou I. The association of serum lipids, lipoproteins and apolipoproteins with selected trace elements and minerals in phenylketonuric patients on diet. Clin Nutr. 2004;23:401-407.
  53. Hanley WB, Lee AW, Hanley AJ, et al. “Hypotyrosinemia” in phenylketonuria. Mol Genet Metab. 2000;69:286-294.
  54. Modan-Moses D, Vered I, Schwartz G, et al. Peak bone mass in patients with phenylketonuria. J Inherit Metab Dis. 2007;30:202-208.
  55. Dobbelaere D, Michaud L, Debrabander A, et al. Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J Inherit Metab Dis. 2003;26:1-11.
  56. Moyle JJ, Fox AM, Arthur M, Bynevelt M, Burnett JR. Meta-analysis of neuropsychological symptoms of adolescent and adults with PKU. Neuropsychol Rev. 2007;17:91-101.
  57. Moyle JJ, Fox AM, Bynevelt M, Arthur M, Burnett JR. A neuropsychological profile of off-diet adults with phenylketonuria. J Clin Exp Neuropsych. 2007;29:436-441.
  58. Gassio R, Fusté E, López-Sala A, Artuch R, Vilaseca MA, Campistol J. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. 2005;33:267-271.
  59. Smith I, Knowles J. Behaviour in early treated phenylketonuria: a systematic review. Eur J Pediatr. 2000;159:S89-S93.
  60. 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. 2004;27:137-143.
  61. Feldmann R, Denecke J, Grenzebach M, Weglage J. Frontal lobe-dependent functions in treated phenylketonuria: blood phenylalanine concentrations and long-term deficits in adolescents and young adults. J Inherit Metab Dis. 2005;28:445-455.
  62. Channon S, Mockler C, Lee P. Executive functioning and speed of processing in phenylketonuria. Neuropsychology. 2005:19:679-686.
  63. Erlandsen H, Stevens RC. A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninemia and phenylketonuria. J Inherit Metab Dis. 2001;24:213-230.
  64. Blau N, Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab. 2004;82:101-111.
  65. 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 randomized placebo-controlled study. Lancet. 2007;370:504-510.
  66. Linscheid P, Schaffner A, Schoedon G. Modulation of inducible nitric oxide synthase mRNA ability by tetrahydrobiopterin in vascular smooth muscle cells. Biochem Biophys Res Commun. 1998;243:137-141.
  67. Muntau AC, Gersting SW. Treatment of patients with tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. In: Blau N, ed. PKU and BH4–Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn, Germany: SPS Publications; 2006:401-433.
  68. Ding Z, Harding CO, Thöny B. State-of-the-art 2003 on PKU gene therapy. Mol Genet Metab. 2004;81:3-8.
  69. Sarkissian CN, Shao Z, Blain F, et al. A different approach to the treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A. 1999;96:2339-2344.
  70. Liu J, Jia X, Zhang J, Xiang H, Hu W, Zhou Y. Study on a novel strategy to treatment of phenylketonuria. Art Cells Blood Subs and Immob Biotech. 2002;30:243-257.
  71. Berry HK, Bofinger MK, Hunt MM, Phillips PJ, Guilfoile MB. Reduction of cerebrospinal fluid phenylalanine after oral administration of valine, isoleucine, and leucine. Pediatr Res. 1982;16:751-755.
  72. Berry HK, Brunner RL, Hunt MM, White PP. Valine, isoleucine, and leucine: a new treatment for phenylketonuria. Am J Dis Child. 1990;144:539-543.
  73. Santos LL, Magalhães MC, Januário JN, Aguiar MJB, Carvalho MRS. The time has come: a new scene for PKU. Genet Mol Res. 2006;5:33-44.
  74. Blau N, Trefz FK. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation [letter]. Mol Genet Metab. 2002;75:186-187.
About PKU.com Privacy Policy Terms and Conditions Site Map Contact Us
© 2007 BioMarin Pharmaceutical Inc. All rights reserved. Proud Supporter of National PKU Awareness Month. BIOMARIN