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Further Studies on Galactocerebroside β-Galactosidase in Globoid Cell Leukodystrophy

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Sphingolipids, Sphingolipidoses and Allied Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 19))

Abstract

The genetic cause underlying globoid cell leukodystrophy (Krabbe’s disease) appears to be the deficiency of galactocerebroside β-galactosidase (galactosylceramide galactosyl hydrolase). Among postmortem organs, the deficiency was initially demonstrated in the brain, liver and spleen from three patients (11). This was later confirmed in the brain, liver and kidney of five additional patients (1, 13). Furthermore, the same deficiency has been demonstrated in peripheral leukocytes (5, 12), serum and cultured fibroblasts (12) from patients afflicted with this fatal neurological disorder. In addition to the diagnostic value of the galactocerebrosidase assay on these easily obtainable materials, our preliminary data indicated the possibility of heterozygous carrier detection utilizing these materials(12).

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References

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Authors and Affiliations

  1. Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pa., 19104, USA

    Kunihiko Suzuki & Yoshiyuki Suzuki

  2. Department of Veterinary Anatomy College of Veterinary Medicine, University of Minnesota, St. Paul, Minn., 55109, USA

    Thomas F. Fletcher

Authors
  1. Kunihiko Suzuki
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  2. Yoshiyuki Suzuki
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  3. Thomas F. Fletcher
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Editor information

Editors and Affiliations

  1. Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center and Department of Pathology, Downstate Medical Center, State University of New York, Brooklyn, New York, USA

    Bruno W. Volk

  2. Department of Pathology, Miriam Hospital and Brown University, Providence, Rhode Island, USA

    Stanley M. Aronson

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© 1972 Springer Science+Business Media New York

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Suzuki, K., Suzuki, Y., Fletcher, T.F. (1972). Further Studies on Galactocerebroside β-Galactosidase in Globoid Cell Leukodystrophy. In: Volk, B.W., Aronson, S.M. (eds) Sphingolipids, Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 19. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6570-0_33

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  • DOI: https://doi.org/10.1007/978-1-4757-6570-0_33

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4757-6572-4

  • Online ISBN: 978-1-4757-6570-0

  • eBook Packages: Springer Book Archive

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