The Biochemical Defect in Farber’s Disease

  • John Dulaney
  • Hugo W. Moser
  • James Sidbury
  • Aubrey Milunsky
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)


In 1967 Prensky et al. reported the accumulation of ceramide in the postmortem tissues of a patient with Faber’s disease (1), and in 1971 Samuelsson and Zetterstrom reported such an accumulation in a second case (2). In 1972 Sugita, Dulaney and Moser demonstrated the deficient activity of an acid ceramidase in the tissues of the case reported by Prensky et al., (3). Since this same enzymatic defect has now been demonstrated in three additional unrelated patients, it appears likely that the deficient activity of acid ceramidase represents the basic defect in this disease, and makes it appropriate to appraise our current knowledge about this striking rare disorder.


Subcutaneous Nodule Postmortem Tissue Enzymatic Defect Sphingolipid Metabolism Ceramide Level 
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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • John Dulaney
    • 1
    • 2
  • Hugo W. Moser
    • 1
    • 2
  • James Sidbury
    • 3
  • Aubrey Milunsky
    • 1
    • 2
  1. 1.Eunice Kennedy Shriver Center at the Walter E. Fernald State SchoolWalthamUSA
  2. 2.Massachusetts General HospitalBostonUSA
  3. 3.National Institute of Child Health and Human DevelopmentBethesdaUSA

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