Adrenoleukodystrophy

  • Yasuo Kishimoto
  • Hugo W. Moser
  • Kunihiko Suzuki

Abstract

Adrenoleukodystrophy (ALD) is a fatal X-linked genetic disease associated with progressive demyelination and adrenal insufficiency. Since discovery of the accumulation of very-long-chain fatty acids in brain white matter and adrenal cortex1 in patients, this disease has been of significant interest for neurochemists. As a result of the development of a specific diagnostic method based on a subtle but significant increase in very-long-chain fatty acids in cultured skin fibroblasts2,3 and plasma,4 the number of known ALD patients has increased considerably, and this disease is now considered to be one of the more frequently occurring inherited diseases involving the lipid metabolic system. In this chapter, we review the recent progress that has been made on the study of the biochemical deficiency in this disease.

Keywords

Adrenal Cortex Cholesterol Ester Culture Skin Fibroblast Brain White Matter Lignoceric Acid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© 111 1999

Authors and Affiliations

  • Yasuo Kishimoto
    • 1
  • Hugo W. Moser
    • 2
  • Kunihiko Suzuki
    • 3
  1. 1.John F. Kennedy Institute and Department of NeurologyJohns Hopkins University School of MedicineBaltimoreUSA
  2. 2.John F. Kennedy InstituteBaltimoreUSA
  3. 3.Rose F. Kennedy Center and Department of NeurologyAlbert Einstein College of MedicineBronxUSA

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