A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation

J Inherit Metab Dis. 1998 Apr;21(2):162-6. doi: 10.1023/a:1005399810735.


We identified a novel mutation, L322P, in a patient with X-linked adrenoleukodystrophy (ALD) who underwent bone marrow transplantation (BMT). An identification of the ALD gene mutation enabled us to employ an approach not dependent on the use of radioisotopes for detecting mixed chimerism. This assay could show more than 99.0% of the patient's peripheral white blood cells were replaced by the donor's cells.

Publication types

  • Case Reports

MeSH terms

  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / therapy
  • Bone Marrow Transplantation*
  • Child
  • Humans
  • Male
  • Mutation*