The role of intelligence in phenylketonuria: A review of research and management

Molecular Genetics and Metabolism

Volumn 99, Issue SUPPL., 2010, Pages

  Brumm, V L ^a   Grant, M L ^b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Blood phenylalanine; IQ; Neurocognitive function; Phenylketonuria

Indexed keywords

PHENYLALANINE;

ARTICLE; BLOOD LEVEL; COGNITIVE DEFECT; DIET RESTRICTION; DIET THERAPY; HUMAN; INTELLIGENCE QUOTIENT; NEUROLOGIC DISEASE; NEUROPSYCHOLOGY; PHENYLKETONURIA; PRIORITY JOURNAL; TREATMENT DURATION; TREATMENT PLANNING;

EID: 72249101037     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.10.015     Document Type: Article

References (68)

1. Scriver C.R., and Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 1667-1724
2. Shulkin B.L., Betz A.L., Koeppe R.A., and Agranoff B.W. Inhibition of neutral amino acid transport across the human blood-brain barrier by phenylalanine. J. Neurochem. 64 (1995) 1252-1257
3. Diamond A., Prevor M.B., Callender G., and Druin D.P. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr. Soc. Res. Child Dev. 62 i-v (1997) 1-208
4. Dyer C.A. Pathophysiology of phenylketonuria. Dev. Disab. Res. Rev. 5 (1999) 104-112
5. Pietz J., Dunckelmann R., Rupp A., Rating D., Meinck H.M., Schmidt H., and Bremer H.J. Neurological outcome in adult patients with early-treated phenylketonuria. Eur. J. Pediatr. 157 (1998) 824-830
6. National Institutes of Health Consensus Development Panel, National Institutes of Health Consensus Development Conference Statement, Phenylketonuria (PKU): Screening and Management, October 16-18, 2000, Pediatrics 108 (2001) 972-982.
7. Burgard P. Development of intelligence in early treated phenylketonuria. Eur. J. Pediatr. 159 (2000) 74-79
8. Smith I., Beasley M.G., and Ades A.E. Intelligence and quality of dietary treatment in phenylketonuria. Arch. Dis. Child 65 (1990) 472-478
9. Moyle J.J., Fox A.M., Arthur M., Bynevelt M., and Burnett J.R. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol. Rev. 17 (2007) 91-101
10. DeRoche K., and Welsh M. Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function. Dev. Neuropsychol. 33 (2008) 474-504
11. Waisbren S.E., Noel K., Fahrbach K., Cella C., Frame D., and Dorenbaum A. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol. Genet. Metab. 92 (2007) 63-70
12. Koch R., Burton B., Hoganson G., Peterson R., Rhead W., Rouse B., Scott R., Wolff J., Stern A.M., Guttler F., Nelson M., de la Cruz F., Coldwell J., Erbe R., Geraghty M.T., Shear C., Thomas J., and Azen C. Phenylketonuria in adulthood: a collaborative study. J. Inherit. Metab. Dis. 25 (2002) 333-346
13. Følling A. Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitat. Ztschr. Physiol. Chem. 227 (1934) 169-176
14. Penrose L.S. Inheritance of phenylpyruvic amentia (phenylketonuria). Lancet 226 (1935) 192-194
15. Følling A., Mohr O.L., and Ruud L. Oligophrenia phenylpyrouvica. A recessive syndrome in man, Skrifter Det Norske Vitenskapsakademi I Oslo. I. Mat. Naturv. Klasse 13 (1945) 1-44
16. Penrose L.S. Phenylketonuria: a problem in eugenics. Lancet 247 (1946) 949-957
17. T.A. Munro, in: Proceedings of the Seventh International Conference on Genetics, Cambridge, 1939.
18. Jervis G.A. Phenylpyruvic oligophrenia: introductory study of fifty cases of mental deficiency associated with excretion of phenylpyruvic acid. Arch. Neurol. Psychiatry 38 (1937) 944-963
19. Bernheim M.L.C., and Bernheim F. The production of a hydroxyphenyl compound from I-phenylalanine incubated with liver slices. J. Biol. Chem. 152 (1944) 481
20. Jervis G.A. Deficiency of phenylalanine oxidizing system. Proc. Soc. Exp. Biol. Med. 82 (1953) 514
21. Bickell H., Gerrard J., and Hickmans E.M. The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta Pediatr. 43 (1954) 64-77
22. Guthrie R., and Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32 (1963) 338-343
23. Knox W.E. An evaluation of the treatment of phenylketonuria with diets low in phenylalanine. Pediatrics 26 (1960) 1-11
24. Berry H.K., Sutherland B.S., Guest G.M., and Umbarger B. Chemical and clinical observations during treatment of children with phenylketonuria. Pediatrics 21 (1958) 929-940
25. Ladu B.N. The importance of early diagnosis and treatment of phenylketonuria. Ann. Intern. Med. 51 (1959) 1427-1433
26. Burgard P., Rey F., Rupp A., Abadie V., and Rey J. Neuropsychological functions of early treated patients with phenylketonuria on and off diet. Results of a cross-national and cross-sectional study. Pediatr. Res. 41 (1997) 368-374
27. Dobson J.C., Williamson M.L., Azen C., and Koch R. Intellectual assessment of 111 four-year-old children with phenylketonuria. Pediatrics 60 (1977) 822-827
28. Koch R., Azen C., Friedman E.G., and Williamson M.L. Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age. J. Inherit. Metab. Dis. 7 (1984) 86-90
29. Ris M.D., Williams S.E., Hunt M.M., Berry H.K., and Leslie N. Early-treated phenylketonuria: adult neuropsychologic outcome. J. Pediatr. 124 (1994) 388-392
30. Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria, Arch. Dis. Child. 68 (1993) 426-427.
31. Burgard P., Bremer H.J., Bührdel P., Clemens P.C., Mönch E., Przyrembel H., Trefz F.K., and Ullrich K. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur. J. Pediatr. 158 (1999) 46-54
32. Association française pour le dépistage et la prévention des handicaps de l'enfant (AFDPHE). Management of phenylketonuria and hyperphenylalaninemia: the French guidelines. Arch. Pediatr. 12 (2005) 594-601
33. Bekhof J., van Rijn M., Sauer P.J., Ten Vergert E.M., Reijngoud D.J., and van Spronsen F.J. Plasma phenylalanine in patients with phenylketonuria self-managing their diet. Arch. Dis. Child. 90 (2005) 163-164
34. Schuett V., and Gurda R. Treatment Programs for PKU in the United States. A Survey (1979), US Department of Health, Education and Welfare, Health Services Administration, Division of Clinical Services, Rockville, MD DHEW Publication, No. (HSA) 79-5296
35. Koch R., Moseley K., Ning J., Romstad A., Guldberg P., and Guttler F. Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria. Mol. Genet. Metab. 67 (1999) 148-155
36. Saudubray J.M., Rey F., Ogier H., Abadie V., Farriaux J.P., Ghisolfi J., Guibaud P., Rey J., and Vidailhet M. Intellectual and school performances in early-treated classical PKU patients. The French collaborative study. Eur. J. Pediatr. 146 (1987) A20-A22
37. Burgard P., Schmidt E., Rupp A., Schneider W., and Bremer H.J. Intellectual development of the patients of the German collaborative study of children treated for phenylketonuria. Eur. J. Pediatr. 155 (1999) S33-S38
38. Brown E.S., and Warner R. Mental development of phenylketonuria in children on or off diet after the age of six. Psychol. Med. 6 (1976) 287-290
39. Waisbren S.E., Schnell R.R., and Levy H.L. Diet termination in children with phenylketonuria: a review of psychological assessments used to determine outcome. J. Inherit. Metab. Dis. 3 (1980) 149-153
40. Seashore M., Friedman E., and Novelly R. Loss of intellectual function in children with PKU. Am. J. Hum. Genet. 31 (1979) 62A
41. Schuett V.E., and Brown E.S. Diet policies of PKU clinics in the United States. Am. J. Public Health 74 (1984) 501-503
42. Holtzman N.A., Kronmal R.A., and Van Doorninck W. Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. N. Engl. J. Med. 314 (1986) 593-598
43. Azen C., Koch R., Friedman E., Wenz E., and Fishler K. Summary of findings from the United States Collaborative Study of children treated for phenylketonuria. Eur. J. Pediatr. 155 (1996) S29-S32
44. Lenke R.R., and Levy H.L. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N. Engl. J. Med. 303 (1980) 1202-1208
45. Levy H.L., and Ghavami M. Maternal phenylketonuria: a metabolic teratogen. Teratology 53 (1996) 176-184
46. Waisbren S.E., Hanley W., Levy H.L., Shifrin H., Allred E., Azen C., Chang P.N., Cipcic-Schmidt S., de la Cruz F., Hall R., Matalon R., Nanson J., Rouse B., Trefz F., and Koch R. Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study. JAMA 283 (2000) 756-762
47. Waisbren S.E., and Azen C. Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics 112 (2003) 1544-1547
48. Koch R., Hanley W., Levy H., Matalon K., Matalon R., Rouse B., Trefz F., Guttler F., Azen C., Platt L., Waisbren S., Widaman K., Ning J., Friedman E.G., and de la Cruz F. The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 112 (2003) 1523-1529
49. Güttler F., Azen C., Guldberg P., Romstad A., Hanley W.B., Levy H.L., Matalon R., Rouse BM., Trefz F., de la Cruz F., and Koch R. Relationship among genotype biochemical phenotype and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics 104 (1999) 258-262
50. Channon S., Goodman G., Zlotowitz S., Mockler C., and Lee P.J. Effects of dietary management of phenylketonuria on long-term cognitive outcome. Arch. Dis. Child 92 (2007) 213-218
51. Feldmann R., Denecke J., Pietsch M., Grenzebach M., and Weglage J. Phenylketonuria. No specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics. Pediatr. Res. 51 (2002) 761-765
52. White D.A., Nortz M.J., Mandernach T., Huntington K., and Steiner R.D. Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria. Neuropsychologia 15 (2001) 221-229
53. Leuzzi V., Pansini M., Sechi E., Chiarotti F., Carducci C., Levi G., and Antonozzi I. Executive function impairment in early-treated PKU subjects with normal mental development. J. Inherit. Metab. Dis. 27 (2004) 115-125
54. Huijbregts S.C., de Sonneville L.M., Licht R., van Spronsen F.J., Verkerk P.H., and Sergeant J.A. Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations. Neuropsychologia 40 (2004) 7-15
55. Diamond A. Phenylalanine levels of 6-10 mg/dl may not be as benign as once thought. Acta Paediatr. 407 (1994) S89-S91
56. White D.A., Nortz M.J., Mandernach T., Huntington K., and Steiner R.D. Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. J. Int. Neuropsychol. Soc. 8 (2002) 1-11
57. Anastasoaie V., Kurzius L., Forbes P., and Waisbren S. Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol. Genet. Metab. 95 (2008) 17-20 (Epub 2008 Aug 13)
58. Weglage J., Wiedermann D., Denecke J., Feldman R., Koch H.G., Ullrich K., and Moller H.E. Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. J. Inherit. Metab. Dis. 25 (2002) 431-436
59. Bick U., Fahrendorf G., Ludolph A.C., Vassallo P., Weglag J., and Ullrich K. Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging. Eur. J. Pediatr. 150 (1991) 185-189
60. Cleary M.A., Walter J.H., Wraith J.E., White F., Tyler K., and Jenkins J.P. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J. Pediatr. 127 (1995) 251-255
61. 1H magnetic resonance spectroscopy. Pediatr. Res. 38 (1995) 657-663
62. Pietz J., Meyding-Lamadé U.K., and Schmidt H. Magnetic resonance imaging of the brain in adolescents with phenylketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency. Eur. J. Pediatr. 155 (1996) S69-S73
63. Thompson A.J., Smith I., Brenton D., Youl B.D., Rylance G., Davidson D.C., Kendall B., and Lees A.J. Neurological deterioration in young adults with phenylketonuria. Lancet 336 (1990) 602-605
64. Anderson P.J., Wood S.J., Francis D.E., Coleman L., Anderson V., and Boneh A. Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?. Dev. Neuropsychol. 32 (2007) 645-668
65. Vermathen P., Robert-Tissot L., Pietz J., Lutz T., Boesch C., and Kreis R. Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn. Reson. Med. 58 (2007) 1145-1156
66. Scriver C.R., and Waters P.J. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 15 (1999) 267-272
67. Tyfield L.A. Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?. Mol. Pathol. 50 (1997) 169-174
68. Primrose D.A. Phenylketonuria with normal intelligence. J. Ment. Defic. Res. 27 (1983) 239-246