Skip to main content

Effect of Phenylalanine on Brain Maturation: Implications for the Treatment of Patients with Phenylketonuria

  • Chapter

Abstract

High levels of phenylalanine inhibit the central nervous system specific ATP-sulfurylase, leading to a decreased synthesis of sulfatides. The hypothesis is developed that this in turn leads to an increased turnover of central nervous system myelin which is not compensated by an increased rate of synthesis. As a consequence, synaptic contacts regress, resulting in fewer stable synaptic contacts, which is a contribution to brain dysfunction observed in not treated or poorly treated PKU patients.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Berger, R., Springer, J., and Hommes, F.A. (1980). Brain protein and myelin metabolism in young hyperphenylalaninemic rats. Mol. Cell Biol. 26:31–36.

    CAS  Google Scholar 

  • Burneil, J.N., and Roy, A.B. (1978). Purification and properties of the ATP-sulfurylase of rat liver. Biochim. Biophys. Acta 527:239–248.

    Google Scholar 

  • Burry, R.W., Knirs, D.A., and Scribner, L.R. (1984). Mechanisms of synapse formation and maturation. In Jones, G. (ed.), Current topics in research in synapses, Vol. I. New York: Alan Liss, pp. 1–51.

    Google Scholar 

  • Changeux, J.P., Couriege, P., and Danchin, A. (1973). A theory of the epigenesis of neuronal networks by selective stabilization of synapses. Proc. Natl. Acad. Sci. USA 70:2977–2978.

    Article  Google Scholar 

  • Changeux, J.P., and Danchin, A. (1976). Selective stabilization of developing synapses as a mechanism for the specification of neuronal networks. Nature 267:705–712.

    Article  Google Scholar 

  • Chase, H.P., and O’Brien, D. (1970). Effects of excess phenylalanine and of other amino acids on brain development in infant rats. Pediatr. Res. 4:96–102.

    Article  PubMed  CAS  Google Scholar 

  • Dobbing, J. (1972). Vulnerable periods of brain development. In von Murait, A. (ed.), 2. Amsterdam: Elsevier, pp. 9–29.

    Google Scholar 

  • Harding, B.N., Leonard, J.S., and Erdohasi, M. (1984). Ornithine carbamoyl transferase deficiency: a neuropathological study. Eur. J. Pediatr. 141:215–220.

    Article  PubMed  CAS  Google Scholar 

  • Hommes, F.A. (1985) Myelin turnover at later stages of brain development in experimental hyperphenylalaninemia. In Bickel, H., and Wachtel, U. (eds.), Inherited diseases of amino acid metabolism. Stuttgart: Georg Thieme Verlag, pp. 67–85.

    Google Scholar 

  • Hommes, F.A., Eller, G.A., and Taylor, H.E. (1982a). The effect of phenylalanine on myelin metabolism in adolescent rats. In Cockburn, F., and Gitzelmann, R. (eds.), Inborn errors of metabolism in humans. Lancaster: MTP Press, pp. 193–199.

    Chapter  Google Scholar 

  • Hommes, F.A., Eller, G.A., and Taylor, H.E. (1982b). Turnover of the fast component of myelin and myelin proteins in experimental hyperphenylalaninemia. Relevance to termination of dietary treatment. J. Inher. Metab. Dis. 5:21–27.

    Article  PubMed  CAS  Google Scholar 

  • Hommes, F.A., and Moss, L. (1986). The assay of ATP-sulfurylase. Anal. Bio-chem. 154:100–104.

    CAS  Google Scholar 

  • Hommes, F.A., Moss, L., and Touchston, J. (1987). Purification and some properties of liver APS-kinase. Biochim. Biophys. Acta 924:270–275.

    Article  PubMed  CAS  Google Scholar 

  • Hopkins, W.G., and Brown, M.C. (1985). Development of nerve cells and their connections. Cambridge: Cambridge University Press.

    Google Scholar 

  • Matsuo, K., and Hommes, F.A. (1987). Regional distribution of the phenylalal-nine sensitive ATP-sulfurylase in brain. J. Inher. Metab. Dis. 10:62–65.

    Article  PubMed  CAS  Google Scholar 

  • Matsuo, K., Moss, L., and Hommes, F.A. (1987a). Properties of the 3′-phosphoadenosine 5′-phosphosulfate (PAPS) synthesizing systems of brain and liver. Neurochem. Res. 11:1–10.

    Article  Google Scholar 

  • Matsuo, K., Moss, L., and Hommes, F.A. (1987b). The development of ATP-sulfurylase and APS kinase in rat cerebrum and liver. Develop. Neurosci. 9:128–132.

    Article  CAS  Google Scholar 

  • Prensky, A.L., Carr, S., and Moser, H.W. (1968). Development of myelin in inherited disorders of amino acid metabolism. Arch. Neurol. 19:552–559.

    Article  PubMed  CAS  Google Scholar 

  • Schumann, R.M., Leech, R.W., and Scott, C.R. (1978). The neuropathology of the non-ketotic and ketotic hyperglycinemias: three cases. Neurology 28:139–144.

    Google Scholar 

  • Shah, S.N., Peterson, N.A., and McKean, C. (1972a). Lipid composition of human cerebral white matter and myelin in phenylketonuria. J. Neurochem. 19:2369–2376.

    Article  PubMed  CAS  Google Scholar 

  • Shah, S.N., Peterson, N.A., and McKean, C. (1972b). Impaired myelin formation in experimental hyperphenylalaninemia. J. Neurochem. 19:479–485.

    Article  PubMed  CAS  Google Scholar 

  • Sugahara, K., and Schwartz, N.B. (1982a). Defect in 3′-phosphoadenosine 5′-phosphosulfate synthesis in brachymorphic mice. I. Characterization of the defect. Arch. Biochem. Biophys. 214:589–601.

    Article  PubMed  CAS  Google Scholar 

  • Sugahara, K., and Schwartz, N.B. (1982b). Defect in 3′-phosphoadenosine 5′-phosphosulfate synthesis in brachymorphic mice. II. Tissue distribution of the defect. Arch. Biochem Biophys. 214:602–609.

    Article  PubMed  CAS  Google Scholar 

  • Taylor, E.H. (1982). Effect of experimental hyperphenylalaninemia on myelin metabolism and neurotransmitter synthesis at later stages of brain development. Thesis, Medical College of Georgia.

    Google Scholar 

  • Taylor, E.H., and Hommes, F.A. (1983). Effect of experimental hyperphenylalaninemia on myelin metabolism at later stages of brain development. Int. J. Neurosci. 20:217–228.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1988 Birkhäuser Boston

About this chapter

Cite this chapter

Hommes, F.A., Matsuo, K. (1988). Effect of Phenylalanine on Brain Maturation: Implications for the Treatment of Patients with Phenylketonuria. In: Wurtman, R.J., Ritter-Walker, E. (eds) Dietary Phenylalanine and Brain Function. Birkhäuser Boston. https://doi.org/10.1007/978-1-4615-9821-3_28

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-9821-3_28

  • Publisher Name: Birkhäuser Boston

  • Print ISBN: 978-1-4615-9823-7

  • Online ISBN: 978-1-4615-9821-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics