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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-09

AUTHORS

David P. Brenton, Joachim Pietz

ABSTRACT

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. More... »

PAGES

s114-s120

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/pl00014373

DOI

http://dx.doi.org/10.1007/pl00014373

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028729701

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11043157


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