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Adrenoleukodystrophy

  • Chapter
Pathological Neurochemistry

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.

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Author information

Authors and Affiliations

  1. John F. Kennedy Institute and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Yasuo Kishimoto

  2. John F. Kennedy Institute, Baltimore, Maryland, 21205, USA

    Hugo W. Moser

  3. Rose F. Kennedy Center and Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, 10461, USA

    Kunihiko Suzuki

Authors
  1. Yasuo Kishimoto
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  2. Hugo W. Moser
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  3. Kunihiko Suzuki
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Editors and Affiliations

  1. Center for Neurochemistry, Wards Island, New York, USA

    Abel Lajtha

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Kishimoto, Y., Moser, H.W., Suzuki, K. (1999). Adrenoleukodystrophy. In: Lajtha, A. (eds) Pathological Neurochemistry. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0797-7_8

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  • DOI: https://doi.org/10.1007/978-1-4757-0797-7_8

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4757-0799-1

  • Online ISBN: 978-1-4757-0797-7

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