| Autor: |
Teresa J, Stradomska, Katarzyna, Drabko, Elżbieta, Moszczyńska, Anna, Tylki-Szymańska |
| Rok vydání: |
2014 |
| Předmět: |
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| Zdroj: |
Folia neuropathologica. 52(2) |
| ISSN: |
1509-572X |
| Popis: |
X-linked adrenoleukodystrophy is a rare, neurodegenerative peroxisomal disorder connected with mutation in the ABCD1 gene, causing impairment of the peroxisomal β-oxidation process and in consequence, accumulation of very long-chain fatty acids (VLCFA) in blood and tissues. In this study we present serum very long-chain fatty acids levels during clinical course in an X-linked adrenoleukodystrophy patient after haematopoietic stem cell transplantation (HSCT) and on Lorenzo's Oil in a 11 years' period. The patient was diagnosed at the age of 8 months by family screening. The administration of LO was started at 2 years of age. HSCT from a family donor was performed twice. VLCFA serum levels were detected by the GC method. Chimaerism subsequent to HSCT was also analyzed. Increasing very long-chain fatty acids levels correlate with a decreasing chimaerism level after haematopoietic stem cell transplantation. The sequential monitoring of very long-chain fatty acids serum levels is important and useful for assessment of engraftment, graft failure or rejection. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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