Cerebral and Visceral Organ Gangliosides and Related Glycolipids in GM1-Gangliosidosis Type 1, Type 2 and Chronic Type

  • Tamotsu Taketomi
  • Atsushi Hara
  • Tooru Kasama
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 174)


GMl-gangliosidosis is an autosomal recessive hereditary disease caused by deficiency of lysosomal acid β-galactosidase. Recent studies 1,2 have indicated that most of GMl-gangliosidoses can be clinically classified into three types: infantile Type 1, juvenile Type 2 and adult Chronic Type. Also, a genetic and biochemical study3 has suggested that the phenotypic variation found in GMl-gangliosidosis results from different alleic mutations affecting the GM1 β -galactosidase locus, and that different combinations of these mutations account for the clinical heterogeneity of this disease. However, it seems that further biochemical investigation still remains to be carried out on storage substances in cerebral and visceral organs of patients with GMl-gangliosidosis. We have recently studied gangliosides and related glycolipids in brain, liver, spleen and kidney of Type 1, Type 2 and Chronic Type patients. These experimental results which showed chemically characteristic properties in each Type will be presented and discussed here.


Visceral Organ Chronic Type Neutral Glycolipid Simple Lipid Alleic Mutation 
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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • Tamotsu Taketomi
    • 1
  • Atsushi Hara
    • 1
  • Tooru Kasama
    • 1
  1. 1.Department of Biochemistry, Institute of Adaptation MedicineShinshu University School of MedicineMatsumoto 390Japan

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