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

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


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.


Cetylpyridinium Chloride Metachromatic Leukodystrophy Normal Human Liver Hurler Syndrome Globoid Cell Leukodystrophy 
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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • Glyn Dawson
    • 1
  1. 1.Depts. Pediatrics and Biochemistry, Joseph P. Kennedy Jr. Mental Retardation Research CenterUniversity of ChicagoChicagoUSA

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