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Glycosphingolipid Abnormalities in Liver from Patients with Glycosphingolipid and Mucopolysaccharide Storage Diseases

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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 lipid and mucopolysaccharide storage diseases were first detected by characterizing the material which accumulated in liver or brain. In the case of the glycosphingolipidoses, these abnormal accumulations have been shown to be the result of specific inherited lysosomal hydrolase deficiencies. Normal human liver contains five major glycosphingolipid components, glucosylceramide (GL-1a), lactosylceramide (GL-2a), trihexosylceramide (GL-3), globoside (GL-4) and hematoside (GM3) (4,15) together with smaller amounts of disialohematoside (GD3) and galactosylceramide (GL-lb) (Fig. 1). Human liver also contains trace amounts of sulfatide (GL-lbS), gangliosides such as GM1, and fucoglycosphingolipids (blood group substances). Further, liver has been shown to contain most of the lysosomal glycosyl hydrolases associated with the catabolism of glycosphingolipids. Therefore, the determination of glycosphingolipid levels in this organ (which can be readily biopsied) should be useful in understanding the biochemical defects in a wide range of storage diseases.

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Authors and Affiliations

  1. Depts. Pediatrics and Biochemistry, Joseph P. Kennedy Jr. Mental Retardation Research Center, University of Chicago, Chicago, Illinois, 60637, USA

    Glyn Dawson

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  1. Glyn Dawson
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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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Dawson, G. (1972). Glycosphingolipid Abnormalities in Liver from Patients with Glycosphingolipid and Mucopolysaccharide Storage Diseases. 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_28

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  • DOI: https://doi.org/10.1007/978-1-4757-6570-0_28

  • 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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