caa a22 4500 475785673 CHVBK 20180406123657.0 cr unu---uuuuu 170329e20000901xx s 000 0 eng 10.1007/PL00014373 doi (NATIONALLICENCE)springer-10.1007/PL00014373 Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities [Elektronische Daten] [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. Springer-Verlag Berlin Heidelberg, 2000 Key words Dietary therapy nationallicence Magnetic resonance imaging nationallicence Neurology nationallicence Pathology nationallicence Phenylketonuria nationallicence AbbreviationsHPA hyperphenylalaninaemia nationallicence 1H-MRS proton magnetic resonance spectroscopy nationallicence Phe phenylalanine nationallicence PKU phenylketonuria nationallicence Brenton David P. Postgraduate Centre, The Middlesex Hospital, 48, Riding House Street, London W1P 7PN, UK e-mail: sally.wynne-morgan@uclh.org Tel.: +44-020-7679-9527; Fax: +44-020-7679-9248, GB aut Pietz Joachim Department of Paediatric Neurology, University of Heidelberg, Heidelberg, Germany, DE aut https://doi.org/10.1007/PL00014373 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014373 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Brenton David P. Postgraduate Centre, The Middlesex Hospital, 48, Riding House Street, London W1P 7PN, UK e-mail: sally.wynne-morgan@uclh.org Tel.: +44-020-7679-9527; Fax: +44-020-7679-9248, GB aut NATIONALLICENCE 700 1- Pietz Joachim Department of Paediatric Neurology, University of Heidelberg, Heidelberg, Germany, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer