- Tytuł:
- Adrenomyeloneuropathy – a case report
- Autorzy:
-
Leksa, Natalia
Aebisher, David
Galiniak, Sabina
Uberman-Kluz, Dominika
Bartosz, Serweryn
Bartusik-Aebisher, Dorota - Powiązania:
- https://bibliotekanauki.pl/articles/454995.pdf
- Data publikacji:
- 2019
- Wydawca:
- Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
- Tematy:
-
adrenoleukodystrophy
fatty acids
steroid therapy - Opis:
- 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.
- Źródło:
-
European Journal of Clinical and Experimental Medicine; 2019, 3; 274-276
2544-2406
2544-1361 - Pojawia się w:
- European Journal of Clinical and Experimental Medicine
- Dostawca treści:
- Biblioteka Nauki
Artykuł