ISSN:
1432-1076
Keywords:
Key words Dietary therapy
;
Magnetic resonance imaging
;
Neurology
;
Pathology
;
Phenylketonuria
;
AbbreviationsHPA hyperphenylalaninaemia
;
1H-MRS proton magnetic resonance spectroscopy
;
Phe phenylalanine
;
PKU phenylketonuria
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/PL00014373
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