Adrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oil |
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| Authors: | Hugo W. Moser James M. Powers Kirby D. Smith |
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| Affiliation: | Kennedy Krieger Institute and the Departments of Neurology and Pediatrics at Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA.;University of Rochester Medical Center, Department of Pathology, 601 Elmwood Avenue, Rochester, NY 14642, USA.;Kennedy Krieger Institute and the Department of Pediatrics at the Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA. |
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| Abstract: | Knowledge about adrenoleukodystrophy (ALD), a disorder which was described first in 1923, has increased greatly during recent years. The principal biochemical abnormality, the presumed enzyme defect, and the gene defect, have been defined. A dietary therapy has been proposed and attracted world-wide attention through a motion picture. Nevertheless, many questions remain and cannot be answered without a more fundamental understanding of pathology and pathogenesis. This article will provide a review of the history, clinical features, pathology, biochemistry, and the gene defect, and then appraise current efforts to clarify pathogenesis and develop therapeutic approaches. |
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