Adrenomyeloneuropathy – a case report

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dc.contributor.authorLeksa, Natalia
dc.contributor.authorAebisher, David
dc.contributor.authorGaliniak, Sabina
dc.contributor.authorUberman-Kluz, Dominika
dc.contributor.authorBartosz, Serweryn
dc.contributor.authorBartusik-Aebisher, Dorota
dc.date.accessioned2019-11-04T12:28:21Z
dc.date.available2019-11-04T12:28:21Z
dc.date.issued2019
dc.description.abstractIntroduction. 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.pl_PL.UTF-8
dc.identifier.citationEuropean Journal of Clinical and Experimental Medicine T. 17, z. 3 (2019), s. 274–276pl_PL.UTF-8
dc.identifier.doi10.15584/ejcem.2019.3.13
dc.identifier.eissn2544-1361
dc.identifier.issn2544-2406
dc.identifier.urihttp://repozytorium.ur.edu.pl/handle/item/5069
dc.language.isoengpl_PL.UTF-8
dc.publisherWydawnictwo Uniwersytetu Rzeszowskiegopl_PL.UTF-8
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Międzynarodowe*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectadrenoleukodystrophypl_PL.UTF-8
dc.subjectfatty acidspl_PL.UTF-8
dc.subjectsteroid therapypl_PL.UTF-8
dc.titleAdrenomyeloneuropathy – a case reportpl_PL.UTF-8
dc.typearticlepl_PL.UTF-8
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European Journal of Clinical and Experimental Medicine T.17, z. 3 (2019)