Central nervous system effects in individuals with phenylketonuria

Developmental Brain Dysfunction

Volumn 9, Issue 4, 1996, Pages 165-179

  Pueschel, Siegfried M ^a,b  

^a BROWN UNIVERSITY   (United States)

^b RHODE ISLAND HOSPITAL   (United States)

Author keywords

Central nervous system; Neuropathology; Neuropsychology; Phenylalanine metabolism; Phenylketonuria

Indexed keywords

PHENYLALANINE;

DIET RESTRICTION; HUMAN; MENTAL DEFICIENCY; NEUROPATHY; PHENYLKETONURIA; REVIEW;

EID: 0029811641     PISSN: 10195815     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (77)

1. Fölling A: Über die Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität. Z Physiol Chem 1934;227:169 - 176.
2. Penrose LS, Quastel JH: Metabolic studies on phenylketonuria. Biochem J 1937;31:266 - 274.
3. Jervis GA: Phenylpyruvic oligophrenia: Deficiency of phenylalanine oxidizing system. Proc Soc Exp Biol Med 1953;82:514 - 515.
4. Udenfriend S, Cooper JR: The enzymatic conversion of phenylalanine to tyrosine. J Biol Chem 1952;194:503 - 517.
5. Jervis GA: Phenylpyruvic oligophrenia: Deficiency of phenylalanine oxidizing system. Proc Soc Exp Biol Med 1953;82:514 - 515.
6. Kaufman S: Enzymatic conversion of phenylalanine to tyrosine. J Biol Chem 1957;226:511 - 524.
7. Kaufman S: The structure of the phenylalanine hydroxylation cofactor. Proc Natl Acad Sci USA 1963;50:1085 - 1093.
8. Bickel H, Gerrard AJ, Hickman EM: Influence on phenylalanine intake on phenylketonuria. Lancet 1953;ii:812.
9. Armstrong MD, Tyler FH: Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria. J Clin Invest 1955;34:565 - 580.
10. Guthrie R: Blood screening for phenylketonuria. JAMA 1961;178:863 - 869.
11. Menkes JH: The pathogenesis of mental retardation in phenylketonuria and other inborn errors of amino acid metabolism. Pediatrics 1967;39: 297 - 308.
12. Waisman HA: Induced phenylketonuria in experimental animals: Opportunities and limitations; in Anderson JA, Swaiman KF (eds): Phenylketonuria and Allied Metabolic Diseases. Washington, US Department of Health, Education and Welfare, US Government Printing Office, 1967, pp 21 - 37.
13. Lenke RR, Levy HL: Maternal phenylketonuria and hyperphenylalaninemia: An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980;303:1202 - 1208.
14. Kudo Y, Boyd CA: Transport of amino acids by the human placenta: Predicted effects thereon of maternal hyperphenylalaninemia. J Inherit Metab Dis 1990;13:617 - 626.
15. Scriver CR, Kaufman S, Woo SLC: The hyperphenylalaninemias; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Diseases, ed 6. New York, McGraw-Hill, 1989.
16. Krause W, Halminski M, McDonald L, Dembure P, Salvo R, Friedes SR, Elsas L: Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. J Clin Invest 1985;75:40.
17. Choi TB, Pardridge WM: Phenylalanine transport at the human blood-brain barrier. J Biol Chem 1986;261:6536.
18. Ghristensen HN: Hypothesis: Where the depleted plasma amino acids go in phenylketonuria, and why. Perspect Biol Med 1987;30:186 - 189.
19. Scriver CR, Rosenberg LE: Amino Acid Metabolism and Its Disorders. Philadelphia, Saunders, 1973, p 151.
20. Aragon MC, Gimenez C, Valdivieso F: Inhibition by L-phenylalanine of tyrosine transport by synaptosomal plasma membrane vesicles: Implications in the pathogenesis of phenylketonuria. J Neurochem 1982;39:1185.
21. Bessman SP, Williamson ML, Koch R: Diet, genetics and mental retardation interaction between phenylketonuria heterozygous mother and fetus to produce nonspecific diminution of IQ: Evidence in support of the justification hypothesis. Proc Natl Acad Sci USA 1978;75:1562.
22. Batshaw ML, Valle D, Bessman SP: Unsuccessful treatment of phenylketonuria with tyrosine. J Pediatr 1981;99:159.
23. Weber G: Inhibition of human brain pyruvate kinase and hexokinase by phenylalanine and phenylpyruvate: Possible relevance to phenylketonuric brain damage. Proc Natl Acad Sci USA 1969;63:1365 - 1369.
24. Kaufman S: An evaluation of the possible neurotoxicity of metabolites of phenylalanine. J Pediatr 1989;114:895 - 900.
25. Kaufman S: Phenylketonuria: Biochemical mechanisms; in Agranoff BW, Aprison MH (eds): Advances in Neurochemistry. New York, Plenum Press, 1977, vol 2.
26. Aoki K, Siegel F: Hyperphenylalaninemia: Disaggregation of brain polysomes in young rats. Science 1970;168:129 - 130.
27. Chase HP, O'Brien D: Effect of excess phenylalanine and of other amino acids on brain development in the infant rat. Pediatr Res 1970;4: 96 - 702.
28. Blau K: Phenylalanine hydroxylase deficiency: Biochemical, physiological and clinical aspects of phenylketonuria and related hyperphenylalaninemias; in Youdin MBH (ed): Aromatic Amino Acid Hydroxylases and Mental Disease. New York, Wiley, 1979, p 77.
29. Dwivedy AK, Shah SN: Effects of phenylalanine and its deaminated metabolites on NA +, K + - ATPase activity in synaptosomes from rat brain. Neurochem Res 1982;7:717.
30. Matsuo K, Hommes F: Regional distribution of the phenylalanine-sensitive ATP-sulphurylase in brain. J Inherited Metab Dis 1987;10:62.
31. Hommes FA, Eller AG, Taylor EH: Turnover of the fast components of myelin and myelin proteins in experimental hyperphenylalaninaemia: Relevance to termination of dietary treatment in human phenylketonuria. J Inherit Metab Dis 1982; 5:21 - 27.
32. Krause W, Epstein C, Averbrook A, Dembure P, Elsas L: Phenylalanine alters the mean power frequency of electroencephalograms and plasma L-DOPA in treated patients with phenylketonuria. Pediatr Res 1986;20:1112.
33. Woolley DW, Van der Hoeven T: Serotinin deficiency in infancy as one cause of a mental defect in phenylketonuria. Science 1964;144:883 - 884.
34. Pare CMB, Sandler M, Stacey RS: The relationship between decreased 5-hydroxyindole metabolism and mental defect in phenylketonuria. Arch Dis Child 1959;34:422 - 425.
35. Lykkelund C, Nielsen JB, Lou HC, Rasmussen V, Gerdes AM, Christensen E, Güttier F: Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine. Eur J Pediatr 1988;748: 238 - 245.
36. Güttler F, Lou H: Dietary problems of phenylketonuria: Effect of CNS transmitters and their possible role in behavior and neuropsychological function. J Inherit Metab Dis 1986;9:169 - 177.
37. Cabalska B, Duczynska N, Borzymowska J, Zorska K, Koslacz-Folga A, Bozkowa K: Termination of dietary treatment in phenylketonuria. Eur J Pediatr 1977;120:253 - 262.
38. Gross PT, Berlow S, Schuett VE, Fariello RG: EEC in phenylketonuria: Attempt to establish clinical importance of EEG changes. Arch Neurol 1981;38:122 - 126.
39. Rolle-Daya H, Pueschel SM, Lombroso CT: Electroencephalographic findings in children with phenylketonuria. Am J Dis Child 1975;129:896 - 900.
40. Pietz J, Schmidt E, Matthis P, Kobialka B, Kutsche A, de Sonneville L: EEGs in phenylketonuria. I. Follow-up to adulthood; II. Short-term diet-related changes in EEGs and cognitive function. Dev Med Child Neurol 1993;35:54 - 64.
41. Bara H, Sato S, Inuzura T, Miyatake T: Developmental changes of myelin-associated glycoprotein in rat brain: Study on experimental hyperphenylalaninemia. Neurochem Res 1987;12:459.
42. Dwivedy AK, Shah SN: Effect of hyperphenylalaninemia on polyphosphoinositides content of rat brain. Experimentia 1982;38:1458.
43. Huether G, Kaus R, Neuhoff V: Brain development in experimental hyperphenylalaninaemia: Myelination. Neuropediatrics 1982;13:177.
44. Johnson RC, Shah SN: Etfects of alpha-methylphenylalanine plus phenylalanine treatment during development of myelin in rat brain. Neurochem Res 1980;5:709.
45. Taylor EH, Hommes P: Effect of experimental hyperphenylalaninemia on myelin metabolism at later stages of brain development. Int J Neurosci 1983;20:217.
46. Crome L, Tymms V, Woolf LI: A chemical investigation of the defects of myelination in phenylketonuria. J Neurol Neurosurg Psychiatry 1962; 25:143 - 148.
47. Shah SN, Peterson NA, McKean CM: Impaired myelin formation in experimental hyperphenylalaninemia. J Neurochem 1972;19:479 - 485.
48. Geison RL, Waisman HA: Effects of excess dietary phenylalanine on composition of cerebral lipids. J Neurochem 1970;17:469 - 474.
49. Agrawal HC, Bone AH, Davidson AN: Effect of phenylalanine on protein synthesis in the developing rat brain. Biochem J 1970;117:325 - 331.
50. Burri R, Matthieu JM, Vandevelde M, Lazeyras F, Posse S, Herschkowitz N: Brain damage and recovery in hyperphenylalaninemic rats. Dev Neurosci 1980;12:116 - 126.
51. Burri R, Steffen C, Stieger S, Brodbeck U, Columbo JP, Herschkowitz N: Reduced myelinogenesis and recovery in hyperphenylalaninemic rats: Correlation between brain phenylalanine levels, characteristic brain enzymes for myelination and brain development. Mol Chem Neuropathol 1990;13:57 - 69.
52. Reynolds R, Burri R, Herschkowitz N: Retarded development of neurons and oligodendroglia in rat forebrain produced by hyperphenylalaninemia results in permanent deficits in myelin despite long recovery periods. Exp Neurol 1993;124:357 - 367.
53. Thompson AJ, Tillotson S, Smith I, Kendall B, Moore SG, Brenton DP: Brain MRI changes in phenylketonuria. Brain 1993;116:811 - 821.
54. Villasana D, Butler IJ, Williams JC, Roongta SM: Neurological deterioration in adult phenylketonuria. J Inherit Metab Dis 1989;12:451 - 457
55. Bick U, Fahrendorf G, Ludolph AC, Vasallo P, Weglage J, Ulrich K: Disturbed myelination in patients with hyperphenylalaninaemia: Evaluation with magnetic resonance imaging. Eur J Pediatr 1991;750:185 - 189.
56. Cordero ME, Trejo M, Colombo M, Arenda V: Histological maturation of the neocortex in phenylketonuric rats. Early Hum Dev 1983;8:157.
57. Lacey DJ: Hippocampal dendritic abnormalities in a rat model of phenylketonuria. Ann Neurol 1984;16:577.
58. Huether G, Neuhoff V, Kaus R: Brain development in experimental hyperphenylalaninaemia: Disturbed proliferation and reduced cell numbers in the cerebellum. Neuropediatrics 1983;14:12.
59. Swaiman KF, Wu SR: Phenylalanine and phenylacetate adversely affect developing mammalian brain neurons. Neurology 1984;34:1246.
60. Johnson RC, Shah SN: Effect of hyperphenylalaninemia induced during suckling on brain DNA metabolism in rat pups. Neurochem Res 1984;9:517.
61. Smith I, Beasley MG, Ades AE: Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria. Arch Dis Child 1991;66: 311 - 316.
62. Theile H, Graustein I, Wasser ST, Buhrdel P: Einfluss der Diätlockerung auf die Entwicklung bei PKU-Untersuchungen bei 14 Jahre alten Patienten. Pädiatr Pädol 1990;25:19 - 23.
63. Azen CG, Koch R, Gross Friedman E: Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 1991;145: 35 - 39.
64. Naughten ER: Continuation vs. discontinuation of diet in phenylketonuria. Eur J Clin Nutr 1989; 43:7 - 12.
65. Realmuto GM, Garfinkel BD, Tuchman M, Tsai MY, Chang PN, Fisch RO, Shapiro S: Psychiatric diagnosis and behavioral characteristics of phenylketonuric children. J Nerv Ment Dis 1986;174: 536 - 540.
66. Smith I, Beasley MG, Wolff OH, Ades AE: Behavior disturbance in 8-year-old children with early treated phenylketonuria. J Pediatr 1986;112: 403 - 408.
67. Moen JL, Wilcox RD, Burns JK: PKU as a factor in the development of self-esteem. J Pediatr 1977;90:1027 - 1029.
68. Frankenburg WK, Goldstein AD: Behavioral consequences of increased phenylalanine intake by phenylketonuric children: A pilot study describing a methodology. Am J Ment Defic 1973;77: 524 - 532.
69. Hackney IM, Hanley WB, Davidson W, Lindsao L: Phenylketonuria: Mental development, behavior and termination of low phenylalanine diet. J Pediatr 1968;72:646 - 655.
70. Brunner RL, Berch DB, Berry HK: Phenylketonuria and complex spatial visualization: An analysis of information processing. Dev Med Child Neurol 1987;29:460 - 468.
71. Brunner RL, Jordan MK, Berry HK: Early treated phenylketonuria: Neuropsychologic consequences. J Pediatr 1983;102:831 - 835.
72. Clarke JTR, Gates RD, Hogan SE, Barrett M, McDonald GW: Neuropsychological studies on adolescents with phenylketonuria returned to phenylalanine-restricted diets. Am J Ment Retard 1987;92:255 - 262.
73. Welsh MG, Pennington BF, Ozonoff S, Rouse B, McCabe ERB: Neuropsychology of early treated phenylketonuria: Specific executive function deficits. Child Dev 1990;61:1697 - 1713.
74. Craft S, Gourovitch ML, Dowton B, Swanson JM, Bonforte S: Lateralized deficits in visual attention in males with developmental dopamine depletion. Neuropsychologia 1992;30:341 - 351.
75. Fishler K, Azen CG, Henderson R, Gross Friedman E, Koch R: Psychoeducational findings among children treated for phenylketonuria. Am J Ment Defic 1987;92:65 - 73.
76. Koff E, Boyle P, Pueschel SM: Perceptual-motor functioning in children with phenylketonuria. Am J Dis Child 1977;131:1084 - 1087.
77. Christiano RJ, Smith LC, Woo SCL: Hepatic gene therapy: Adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes. Proc Natl Acad Sci USA 1993;90:2122 - 2126.