Alpha-L-Fucosidase in Normal and Deficient Individuals

  • Kurt Hirschhorn
  • Nicholas G. Beratis
  • Bryan M. Turner
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)


Fucosidosis is a mucolipidosis involving the accumulation in tissues of fucose-containing sphingolipids, glycoproteins and mucopolysaccharides (10,16). The disease is transmitted as an autosomal recessive trait and the basic metabolic defect has been found to be deficiency of α-L-fucosidase (24). The enzymatic defect has been reported in various organs (25,16,14), serum (4,27), cultured skin fibroblasts (16,28) and peripheral blood leukocytes (16,7,4). Genetic heterogeneity of the disease has been identified and we have designated the two distinct forms as types 1 and 2 (13).


Enzyme Replacement Therapy Glycogen Storage Disease Peripheral Leukocyte Isozyme Pattern Culture Skin Fibroblast 


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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • Kurt Hirschhorn
    • 1
  • Nicholas G. Beratis
    • 1
  • Bryan M. Turner
    • 1
  1. 1.Department of PediatricsMount Sinai School of Medicine of The City University of New YorkNew YorkUSA

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