title: Monitoring of very long-chain fatty acids levels in X-linked adrenoleukodystrophy, treated with haematopoietic stem cell transplantation and Lorenzo's Oil.
abstract: 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.
authors.affiliation: Teresa J. Stradomska, Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland, fax: +48 22 815 13 13, e-mail: jstradomska@op.pl, j.de.stradomska@gmail.com.
authors.forename: Teresa J
authors.initials: TJ
authors.lastname: Stradomska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Drabko
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Moszczyńska
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
mesh_terms: D000326:Adrenoleukodystrophy / Q000097:blood* / Q000628:therapy*; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004338:Drug Combinations; D004883:Erucic Acids / Q000627:therapeutic use*; D005227:Fatty Acids / Q000097:blood*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D014304:Triolein / Q000627:therapeutic use*
chemical_list: D004338:Drug Combinations; D004883:Erucic Acids; D005227:Fatty Acids; C079420:Lorenzo's oil; D014304:Triolein