Fucosidosis: Clinical, Pathologic, and Biochemical Studies of Five Patients

  • Benjamin H. Landing
  • George N. Donnell
  • Omar S. Alfi
  • Harry B. Neustein
  • Fred A. Lee
  • Won G. Ng
  • William R. Bergren
  • Philip Sturgeon
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)

Abstract

Fucosidosis is an inherited metabolic disorder in which deficiency of a-1-fucosidase activity results in accumulation of fucosyl compounds in lysosomes (6, 7, 24). Clinical manifestations reported include progressive motor and mental deterioration, coarseness of facial features, cardiomegaly, hepatomegaly, skeletal abnormalities and short stature (1,5,6,8,13). Initially many of the patients exhibit hypotonia, but progressive spasticity develops with time.

Keywords

Polysaccharide Barium Half Life Oligosaccharide Trias 

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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • Benjamin H. Landing
    • 1
    • 2
  • George N. Donnell
    • 2
  • Omar S. Alfi
    • 2
  • Harry B. Neustein
    • 1
  • Fred A. Lee
    • 3
  • Won G. Ng
    • 1
  • William R. Bergren
    • 1
  • Philip Sturgeon
    • 4
  1. 1.Department of PathologyChildrens Hospital of Los Angeles and University of Southern California School of MedicineUSA
  2. 2.Department of PediatricsChildrens Hospital of Los Angeles and University of Southern California School of MedicineUSA
  3. 3.Department of RadiologyChildrens Hospital of Los Angeles and University of Southern California School of MedicineUSA
  4. 4.Brentwood LaboratoriesLos AngelesUSA

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