European Journal of Pediatrics

, Volume 159, Supplement 2, pp S114–S120 | Cite as

Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities

  • David P. Brenton
  • Joachim Pietz


Neurological abnormalities in phenylketonuria were described before dietary treatment became possible. These included tremor, clumsiness, epilepsy, spastic paraparesis and occasionally extrapyramidal features. Neurological deterioration after childhood was recognised. Patients with neurological deterioration described recently have been late diagnosed or intellectually impaired or both. No early diagnosed patient who was well treated and of good intellectual outcome has yet shown neurological deterioration after stopping diet but it may happen.

Conclusion The fascinating links between pathology, magnetic resonance imaging appearances, magnetic resonance spectroscopy results and clinical features are not yet clearly understood. Patients must understand the possible risks of stopping diet and make their choice. All patients need help, support and follow-up regardless of the choices they make over continuing diet.

Key words Dietary therapy Magnetic resonance imaging Neurology Pathology Phenylketonuria 
AbbreviationsHPA hyperphenylalaninaemia 1H-MRS proton magnetic resonance spectroscopy Phe phenylalanine PKU phenylketonuria 

Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • David P. Brenton
    • 1
  • Joachim Pietz
    • 2
  1. 1.Postgraduate Centre, The Middlesex Hospital, 48, Riding House Street, London W1P 7PN, UK e-mail: Tel.: +44-020-7679-9527; Fax: +44-020-7679-9248GB
  2. 2.Department of Paediatric Neurology, University of Heidelberg, Heidelberg, GermanyDE

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