Allogeneic bone marrow transplantation in adrenoleukodystrophy: Clinical, pathologic, and biochemical studies

The biochemical defect in ALD is due to impaired oxidation of VLCFA within the peroxisomes, subcellular organelles in which a wide range of activities occur, including β-oxidation of long-chain fatty acids and synthesis of bile acids and glycerolipids. The observation that normal leukocytes can oxidize VLCFA, and the encouraging clinical reports of allogeneic bone marrow transplantation (BMT) for various lysosomal storage diseases, along with the lack of other therapeutic options, led us to perform BMT in a 12 1/2 -year-old boy with rapidly progressive ALD. In this report we describe the clinical course and the biochemical and neuropathologic findings in our patient after allogeneic BMT from an unaffected normal MHC-matched brother.