Monitoring of very long-chain fatty acids levels in X-linked adrenoleukodystrophy, treated with haematopoietic stem cell transplantation and Lorenzo's Oil.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy is a rare , neurodegenerative peroxisomal disorder connected with mutation in the ABCD 1 gene , causing impairment of the peroxisomal Î²-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 .

Diseases
Validation

Diseases presenting "mutation in the abcd1 gene" symptom

adrenomyeloneuropathy

x-linked adrenoleukodystrophy

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