Phenylketonuria: Questioning the gospel

Expert Review of Endocrinology and Metabolism

Volumn 2, Issue 6, 2007, Pages 809-816

  Hanley, W B ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Hyperphenylalaninemia; Large neutral amino acids; Maternal phenylketonuria; Non PKU mild hyperphenylalaninemia; Phenylalanine; Phenylalanine ammonia lyase; Phenylalanine hydroxylase; Phenylketonuria; Proton nuclear magnetic resonance spectroscopy; Tetrahydrobiopterin

Indexed keywords

AMINO ACID; COBALAMIN; FISH OIL; HYBRID PROTEIN; OMEGA 3 FATTY ACID; PHENYLALANINE; PHENYLALANINE AMMONIA LYASE; PLACEBO; POLYUNSATURATED FATTY ACID; TETRAHYDROBIOPTERIN; VIRUS VECTOR;

AMINO ACID BLOOD LEVEL; BONE DENSITY; CLINICAL TRIAL; COST EFFECTIVENESS ANALYSIS; DIET RESTRICTION; DIET SUPPLEMENTATION; DIET THERAPY; EVOKED VISUAL RESPONSE; FOLLOW UP; GENE REPLACEMENT THERAPY; GROWTH DISORDER; HUMAN; INCIDENCE; MENTAL DEFICIENCY; MOTOR PERFORMANCE; NONHUMAN; NUTRIENT; PHENOTYPE; PHENYLKETONURIA; PREGNANCY; PRIORITY JOURNAL; PROTEIN RESTRICTION; REVIEW; SCREENING TEST;

EID: 36148971629     PISSN: 17446651     EISSN: None     Source Type: Journal    
DOI: 10.1586/17446651.2.6.809     Document Type: Review

References (86)

1. De Waal F. The Ape and the Sushi Master. Basic Books, NY, USA 85-86 (2001).
2. Quoted by MacGillivray TE, Vlahares GJ. Minimally invasive bypass surgery. N. Engl. J. Med. 347(260), 2167-2168 (2002).
3. Shekelle PG, Ortiz E, Rhodes S et al. Validity of the agency for healthcare research and quality clinical practice guidelines: how quickly do guidelines become outdated? JAMA 286(12), 1461-1467 (2001).
4. Fölling A. Uber ausscheidung von phenbrenztraubensaure in den harn als stoffwechselanomalie in verbindung mit imbezillitat. Hoppe-Seyler's Z. Physiol. Chem. 227, 169-176 (1934).
5. Bickel H, Gerrard J, Hickmans EM. The influence of phenylalanine intake on the chemistry and behavior of a phenylketonuria child. Acta Paediatr. 43, 64-77 (1954).
6. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32, 338-343 (1963).
7. Guttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr. Scand. (Suppl. 280), 44-47 (1980).
8. Rutherford P, Poustie V, Rutherford P. Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst. Rev. 19(4), CD004731 (2005).
9. Bodkin JR. Research for newborn screening: developing a national framework. Pediatrics 116(4), 862-871 (2005).
10. Smith ML, Saltzman J, Klim P, Hanley WB, Clarke JTR. Neuropsychological, academic and behavioral function in mild hyperphenylananinemia. Am. J. Ment. Retard. 105(2), 69-80 (2000).
11. Levy H, Waisbren SE, Guttler F et al. Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics 112(6), 1548-1552 (2003).
12. Matalon R, Michals K, Blau N, Rouse B. Hyperphenylananinemia due to inherited deficiencies of tetrahydrobiopterin. Adv. Pediatr. 36, 67-90 (1989).
13. Levy HL, Ghavami M. Maternal phenylketonuria: a metabolic teratogen. Teratology 53, 176-184 (1996).
14. National Institutes of Health Consensus Development Conference Statement. Phenylketonuria. National Institutes of Health Consensus Development Panel. Pediatrics 108, 972-982 (2001).
15. Jervis GA. Phenylpyruvic pligophrenia (phenylketonuria). Res. Publ. Assoc. Res. Nerv. Ment. Dis. 33, 259-282 (1954).
16. Knox WE. An evaluation of the treatment of phenylketonuria with diets low in phenylalanine. Pediatrics 26, 1-11 (1960).
17. Paine RS. The variability in manifestations of untreated patients with PKU. Pediatrics 20, 290-297 (1957).
18. Partington MW. Variations in intelligence in phenylketonuria. CMAJ 86, 736-743 (1962).
19. Pitt D. The natural history of untreated phenylketonuria. Med. J. Aust. 1, 378-383 (1971).
20. McKusick VA. Phenylketonuria (PKU) - 261600. In: Mendelian Inheritance in Man (12th Edition). The Johns Hopkins University Press. Baltimore, MD, USA (1998).
21. Levy HL, Karolkewicz V, Houghton SA, MacCready RA. Screening the 'normal' population in Massachusetts for phenylketonuria. N. Engl. J. Med. 282, 455-458 (1970).
22. Hanley WB, Prenatal testing for maternal phenylketonuria (PKU). Int. Pediatr. 9(Suppl. 1), 33-39 (1994).
23. Machill VG, Seidlitz G, Grimm U, Knapp A. Zur haufigkeit der phenylketonurie mit narmaler intelligenz. Z. Klin. Med. 45, 182-183 (1990).
24. Berman JL, Cunningham GC, Day RW et al. Causes for high phenylalanine with normal tyrosine in newborn screening programs. Am. J. Dis. Child. 117, 54-65 (1969).
25. Koch R, Acosta P, Shaw KNF et al. In: Phenylketonuria and Some Other Inborn Errors of Metabolism. Bickle H, Hudson FP, Woolf LI, Acosta PB (Eds). GT Verlag, Stuttgart Germany 20-25 (1971).
26. Levy HL, Waisbren SE. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. N. Engl. J. Med. 309, 1269-1274 (1983).
27. Waisbren SE, Schnell RR, Levy HL. Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. J. Pediatr. 105, 955-958 (1984).
28. Hanley WB, Platt LD, Bachman RP et al. Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding. Am. J. Obstet. Gynecol. 180, 986-994 (1999).
29. Weglage J, Moller HE, Wiederman D, Cipic-Schmidt S, Zschocke J. Ulrich K. In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations. J. Inherit. Metab. Dis. 221, 81-82 (1998).
30. Moats RA, Koch R, Moseley K et al. Brain phenylalanine concentration in the management of adults with phenylketonuria. J. Inherit. Metab. Dis. 23, 7-14 (2000).
31. Bik-Multanowski M, Pietrzyk JJ. Brain phenylalanine measurement in patients with phenylketonuria: a serious diagnostic method or just reading tea leaves? Mol. Genet Metab. 91(3), 297-298 (2007).
32. Medical Research Council Working Party on Phenylketonuria. Recommendations on the dietary management of phenylketonuria. Arch. Dis. Child. 68, 426-427 (1993).
33. Burgard P, Bremer HJ, Buhrdel P et al. Rational for the-German recommendations for phenylalanine level control in phenylketonuria. Eur. J. Pediatr. 158, 46-54 (1997).
34. de Baulny HO, Abadie V, Feillet F, de Parscau L. Management of phenylketonuria and hyperphenylalaninemia. J. Nutr. 137(6 Suppl. 1), S1561-S1563 (2007).
35. Smith I, Beasley MG, Ades AE. Intelligence and quality of dietary treatment in phenylketonuria. Arch. Dis. Child. 65, 472-478 (1990).
36. Smith I, Beasley MG, Ades AE. Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria. Arch. Dis. Child. 66, 311-316 (1991).
37. Weglage J, Ullrich K, Pietsch M, Funders B, Guttler F, Harmes E. Intellectual, neurological and neuropsychological outcome in untreated subjects with nonphenylketonuria hyperphenylaninemia. German collaborative study on phenylketonuria. Pediatr. Res. 42(3), 378-384 (1997).
38. Costello PM, Beasley MG, Tillotson SL, Smith I. Intelligence in mild atypical phenylketonuria. Eur. J. Pediatr. 153, 260-263 (1994).
39. McChesney R, Habermann J, Greengard O. Phenylalanine uptake in neonatal and infant rat brain. Biol. Neonate 54, 275-284 (1988).
40. Walter JH, White FJ, Hall SK et al. How practical are recommendations for dietary control in phenylketonuria. Lancet 360, 55-57 (2002).
41. Meli C, Bianca S. Dietary control of phenylketonuria. Lancet 360, 2075-2076 (2002).
42. Mundy H, Liburn M, Cousins A, Lee P. Dietary control of phenylketonuria. Lancet 360, 2076 (2002).
43. Beasley MG, Costello PM, Smith I. Outcome of treatment in young adults with phenylketonuria. detected by routine neonatal screening between 1964 and 1971. QJM 87, 155-160 (1993).
44. Brumm VL, Azen C, Moats RA et al. Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review. J. Inherit. Metab. Dis. 27(5), 549-566 (2004).
45. Koch R, Fishler K, Azen C, Guldberg F, Guttler F. The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency, Biochem. Mol. Med. 60, 92-101 (1997).
46. Schmidt F, Rupp A, Burgard P et al. Sustained attention in adult phenylketonuria: the influence of concurrent phenylalanine blood-level. J. Clin. Exp. Neuropsychol. 16, 681-688 (1994).
47. Thompson AJ, Smith I, Brenton D et al. Neurological deterioration in young adults with phenylketonuria. Lancet 336, 602-605 (1990).
48. Weglage J, Oberwittler C, Marquardt T et al. Neurological deterioration in adult phenylketonuria. J. Inherit. Metab. Dis. 23, 83-84 (2000).
49. Ishimaru K, Tamasawa N, Baba M, Matsunaga M, Takebe K. Phenylketonuria with adult-onset neurological manifestations. Rinsho Shinkeigaku 33, 961-965 (1993).
50. Kasim S, Moo LR, Zschocke J. Jinnah HA, Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia. J. Neurol. Neurosurg. Psychiatr. 71, 795-797 (2001).
51. Anderson AE, Avins L. Lowering brain phenylalanine levels by giving other large neutral amino acids. Arch. Neurol. 33, 684-686 (1976).
52. Schindeler S, Ghosh-Jerath S, Thompson S et al. The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. Mol. Genet. Metab. 91, 48-54 (2007).
53. Matalon R, Michals-Matalon K, Bliatia 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. 30, 153-158 (2007).
54. 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. USA 96, 2339-2344 (1999).
55. MacDonald MJ, D'Cunha GB. A modern view of phenylalanine ammonia lyase. Biochem. Cell Biol. 85(3), 273-282 (2007).
56. Ikeda K, Schiltz E, Fuji T et al. Phenylalanine ammonia lyase modified with polyethylene glycol: potential therapeutic agent for phenylketonuria. Amino Acids 29(3), 283-287 (2005).
57. Gamez A, Wang L, Sarkissian CN et al. Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria. Mol. Genet. Metab. 91(4), 325-334 (2007).
58. Kure S, Hou D-C, Ohura T et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J. Pediatr. 135, 375-378 (1999).
59. Fiege B, Blau N. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J. Pediatr. 150, 627-630 (2007).
60. Muntau AC, Roschinger W, Habich M et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N. Engl. J. Med. 347, 2112-2132 (2002).
61. Michals-Matalon K, Bhatia G, Guttler F, Tyring SK, Matalon R. Response of phenylketonuria to tetrahydrobiopterin. J. Nutr. 137(6 Suppl. 1), S1564-S1567 (2007).
62. Yang L, Zhang Z, Ye J et al. Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24(3), 310-313 (2007).
63. Yildirim S, Tokatli A, Yilmaz E, Coskun T. Assessment of tetrahdrobiopterin responsiveness in Turkish hyperphenylalaninemic patients. Turk. J. Pediatr. 49 (1), 1-6 (2007).
64. Levy HL, Milanowski A, Chakrapani A et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6H-BH4) for reduction of phenylalanine levels in patients with phehylketonuria: a Phase III randomized placebo-controlled studly. Lancet 370(9586), 504-510 (2007).
65. Weglage J, Grenzebach M, von Teeffelen-Heithoff A. Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients. J. Inherit. Metab. Dis. 25, 321-322 (2002).
66. Fang B, Eisensmith RC, Li XHC et al. Gene therapy for phenylketonuria: phenotypic correction in genetically deficient mouse by adenovirus mediated hepatic gene transfer. Gene Ther. 1, 247-254 (1994).
67. Eavri R, Lorberboum-Galski H. A novel approach for enzyme replacement therapy: the use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria. J. Biochem. 282(32), 23402-23409 (2007).
68. Greeves LG, Carson DJ, Magee A, Patterson CC. Fractures and phenylketonuria. Acta Pediatr. 86, 242-244 (1997).
69. Perez-Duenas B, Cambra FJ, Vilaseca MA, Lambruschini N, Campistol J, Camacho JA. New approach to osteopenia in phenylketonuric patients. Acta Pediatr. 91, 899-904 (2002).
70. Ambroszkiewicz J, Gajewski J, Laskowska-Klita T. A study in bone turnover markers in pre-pubertal children with phenylketonuria. Eur J. Pediatr. 163, 177-178 (2004).
71. Al-Qadreh A, Schulpis KH, Athanasopoulou H, Mengreli C, Skarpalezou A, Voskaki I. Bone mineral status in children with phenylketonuria under treatment. Acta Paediatr. 87, 1162-1166 (1998).
72. Modan-Moses D, Vered I, Schwartz G et al. Peak bone mass in patients with phenylketonuria. J. Inherit. Metab. Dis. 30(3), 202-208 (2007).
73. Robinso M, White FJ, Cleary MA, Wraith E, Lam WK, Walter JH. Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J. Pediatr. 138, 545-547 (2000).
74. Hanley WB, Feigebaum ASJ, Clarke JTR, Shoonheyt WE, Austin VJ. Vitamin B12 deficiency in adolescents and young adults with phenylketonuria. Eur. J. Pediatr. 155(Suppl. 1), S145-S147 (1996).
75. Nygard O, Vollset SE, Refsum H et al. Total plasma homocysteine and cardiovascular risk factors. JAMA 274, 1526-1533 (1995).
76. Galli C, Agostoni C, Mosconi C, Riva E, Salari PC, Giovannini M. Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention. J. Pediatr. 119, 562-567 (1991).
77. Sanjurjo P, Pertreagudo L, Rodrigues Soriano J, Vilaseca A, Campistol J. Polyunsaturated fatty acid status in patients with phenylketonuria. J. Inherit. Metab. Dis. 17, 704-700 (1994).
78. Beblo S, Reinhardt H, Muntau AC, Mueller-Felber W, Roscher AA, Koletzko B. Fish oil supplementation improves visual evoked potentials in children with phenylketonuria. Neurology 57, 1488-1491 (2001).
79. Beblo S, Reinhardt H, Demmelmain H, Muntau AC, Koletzko B. Effects of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J. Pediatr. 150, 479-484 (2007).
80. Agostini C, Harvie A, McCulloch DL et al. A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria. Dev. Med. Child. Neurol. 48, 207-212 (2006).
81. 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. 26(1), 1-11 (2003).
82. Acosta PB, Yanicelli 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).
83. van Spronsen FJ, Verkerk PH, van Houten M et al. Does impaired growth of PKU patients correlate with strictness of dietary treatment? Acta Paediatr. 86, 816-818 (1997).
84. Hoeksma M, van Rijn M, Verkerk PH et al. The intake of total protein natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. J. Inherit. Metab. Dis. 28, 845-854 (2005).
85. Drogari E, Beasley M, Smith I, Lloyd JK. Timing of strict diet in relation to fetal damage in maternal phenylketonuria. Lancet 2(8565), 927-930 (1987).
86. Koch R, Hanley W, Levy H et al. The maternal PKU international study. Pediatrics 112, 1523-1529 (2003).