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2019 | 3 | 274-276
Article title

Adrenomyeloneuropathy – a case report

Content
Title variants
Languages of publication
EN
Abstracts
EN
Introduction. Adrenoleukodystrophy is a genetic disorder linked to the X chromosome, in which the peroxisomal beta-oxidation process is disturbed. It is a metabolic disease that results in the accumulation of very long chain fatty acids (VLCFAs - very long chain fatty acids) responsible for the symptoms of damage to the adrenal cortex, gonads and the brain. Aim. A clinical case is reported. Description of case. This article describes the case of a 64-year-old woman who had neurological symptoms for many years, gradually increasing without significant improvement after the treatment (periodic steroid therapy). Conclusion. Based on tests (including the determination of the ABCD1 gene and very long chain fatty acids - VLCFA), adrenoleukodystrophy was suspected.
Year
Issue
3
Pages
274-276
Physical description
Contributors
author
  • Department of Neurology, MSWiA Hospital, Rzeszów, Poland
  • Department of Photomedicine and Physical Chemistry, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland
  • Department of Family Pedagogy, Faculty of Pedagogy, University of Rzeszów, Rzeszów, Poland
  • Department of Neurology, MSWiA Hospital, Rzeszów, Poland
  • Department of Anatomy, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland
  • Department of Biochemistry and General Chemistry, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland
  • Department of Neurology, MSWiA Hospital, Rzeszów, Poland
  • Department of Family Pedagogy, Faculty of Pedagogy, University of Rzeszów, Rzeszów, Poland
References
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.mhp-aae8412c-b3c4-4e54-96e5-1068dc37b26c
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