Fetal Pathology and Ultrastructure of Neuropathic Gaucher’s Disease

  • Shigehiko Kamoshita
  • Mariko Odawara
  • Mariko Yoshida
  • Misao Owada
  • Teruo Kitagawa
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)


Gaucher’s disease results from genetically determined abnormal metabolism of glucocerebroside, leading to its accumulation in tissue throughout the body. It is not a common disease, but is one of the more frequently encountered sphingolipidoses. At least three different subtypes of Gaucher’s disease are now known. Numerical nomenclature is sometimes confusing, but according to Fredrickson (8), type I or adult form is to be called a prototype of Gaucher’s disease usually lacking a neurological impairment. Type II or acute infantile form is characterized by a rapidly progressive neurological disorder. The third type is juvenile form, and, although less delineated, is known by later onset and slower progressive course than type M. As a basic metabolic defect, the deficient activity of a specific β-glucosidase is responsible for abnormal accumulation of glucocerebros ide (3)


Multinucleated Giant Cell Thin Layer Chromatogram Metachromatic Leukodystrophy Amniotic Fluid Cell Myelin Figure 
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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • Shigehiko Kamoshita
    • 1
  • Mariko Odawara
    • 1
  • Mariko Yoshida
    • 2
  • Misao Owada
    • 3
  • Teruo Kitagawa
    • 3
  1. 1.Department of PediatricsJichi Medical SchoolTochigi-kenJapan
  2. 2.Department of BiochemistryUniversity of Tokyo School of MedicineTokyoJapan
  3. 3.Department of PediatricsNihon University School of MedicineTokyoJapan

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