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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)

Abstract

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.

Keywords

Subcutaneous Nodule Postmortem Tissue Enzymatic Defect Sphingolipid Metabolism Ceramide Level 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Prensky, A. L., Ferreira, G., Carr, S. and Moser, H. W. Ceramide and ganglioside accumulation in Faber’s lipogranulomatosis. Proc. Soc. Exp. Biol. Med. 126: 725–728, 1967Google Scholar
  2. 2.
    Samuelsson, K. and Zetterstrom, R. Ceramides in a patient with lipogranulomatosis (Faber’s disease) with chronic course. Scand. J. Clin. Lab, Invest. 27: 393–405, 1971CrossRefGoogle Scholar
  3. 3.
    Sugita, M., Dulaney, J. T. and Moser, H. W. Ceramidase deficiency in Faber’s disease (lipogranulomatosis). Science 178: 1100–1102, 1972PubMedCrossRefGoogle Scholar
  4. 4.
    Faber, S., Cohen, J. and Uzman, L. L. Lipogranulomatosis. A new lipoglyco-protein “storage” disease. J. Mt. Sinai Hosp. 24: 816–837, 1957Google Scholar
  5. 5.
    Crocker, A. C., Cohen, J. and Faber, S. The “Lipogranulomatosis” syndrome; Review, with report of patient showing milder involvement. In: Inborn Disorders of Sphingolipid Metabolism. Edited by S. M. Aronson and B. W. Volk. Pergamon Press, Ltd., Oxford, 1967, pp. 485–503Google Scholar
  6. 6.
    Moser, H. W., Prensky, A. L., Wolfe, H. J. and Rosman, N. P. with the technical assistance of S. Carr and G. Ferreira. Faber’s lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. Amer. J. Med. 47: 869–890, 1969PubMedCrossRefGoogle Scholar
  7. 7.
    Cogan, D. G., Kuwabara, T., Moser, H. and Hazard, G. W. Retinopathy in a case of Faber’s lipogranulomatosis. Arch. Ophthal. 75: 752–757, 1966PubMedCrossRefGoogle Scholar
  8. 8.
    Abul-Haj, S. K., Martz, D. G., Douglas, W. F. and Geppert, L. J. Faber’s disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. J. Pediat. 61: 221–232, 1962PubMedCrossRefGoogle Scholar
  9. 9.
    Dustin, P., Tondeur, M., Jonniaux, G., Vamos-Hurwitz, E. and Pelc, S. La maladie de Faber. Etude anatomo-clinique et ultrastructurale. Bull. Acad. Med. Belg. 128: 733–762, 1973Google Scholar
  10. 10.
    Barriere, H. and Gillot, F. La lipogranulomatose de Faber. Nouv. Presse med. 2: 767–770, 1973Google Scholar
  11. 11.
    Van Hoof, F. and Hers, H. G. Farber’s disease. In: Lysosomes and Storage Diseases. Edited by H. G. Hers and F. Van Hoof. Academic Press, Inc. N. Y., 1973, pp. 559–563Google Scholar
  12. 12.
    Bierman, S. M., Edgington, T., Newcomer, V. D. and Pearson, C. M. Faber’s disease: A disorder of mucopolysaccharide metabolism with articular, respiratory, and neurologic manifestations. Arthritis & Rheumat. 9: 620–630, 1966CrossRefGoogle Scholar
  13. 13.
    Rampini, S. and Clausen, J. Farbersche Krankheit (disseminierte Lipogranulomatose) Klinisches Bild und Zusammenfassung der chemischen Befunde. Helvetica Paediatrica Acta 22: 500–515, 1967PubMedGoogle Scholar
  14. 14.
    Battin, P. J., Vital, C. L. and Azanza, X. Une neurolipidose rare avec lesions nodulaires sous-cutanees et articulaires: La lipogranulomatose disseminee de Farber. Annales de Dermatologie et de Syphiligraphie, Paris, 97: 241–248, 1970Google Scholar
  15. 15.
    Schonenberg, H., and Lindenfeiser, R. Faber-Syndrom (Disseminierte lipogranulomatose). Mschr. Kinderheilk 122: 153–159, 1974PubMedGoogle Scholar
  16. 16.
    Zetterstrom, R. Disseminated lipogranulomatosis (Farber’s disease). Acta Paediatr. 47: 501–510, 1958PubMedCrossRefGoogle Scholar
  17. 17.
    Clausen, J. and Rampini, S. Chemical studies of Farber’s disease. Acta Neurol. Scandinav. 46: 313–322, 1970CrossRefGoogle Scholar
  18. 18.
    Iwamori, M. and Moser, H. W. Above-normal urinary excretion of urinary ceramides in Faber’s disease, and characterization of their components by high-performance liquid chromatography. Clin. Chem. 21: 725–729, 1975PubMedGoogle Scholar
  19. 19.
    Sugita, M., Connolly, P., Dulaney, J. T. and Moser, H. W. Fatty acid composition of free ceramides of kidney and cerebellum from a patient with Faber’s disease. Lipids 8: 401–406, 1973PubMedCrossRefGoogle Scholar
  20. 20.
    Philippart, M., Nakatani, S., Zeilstra, K., Tondeur, M., Vamos-Hurwitz, E. and Pelc, S. Faber’s disease: Ceramide accumulation in cultured skin fibroblasts. Trans. Amer. Soc. Neurochem. 6: 152, 1975Google Scholar
  21. 21.
    Dulaney, J. T., Milunsky, A., Moser, H. W. Diagnosis of Farber’s disease by use of cultured fibroblasts. Submitted for publication, 1975Google Scholar
  22. 22.
    Gatt, S., Enzymatic hydrolysis of sphingolipids. I. Hydrolysis and synthesis of ceramides by an enzyme from rat brain. J. Biol. Chem. 241: 3724–3730, 1966PubMedGoogle Scholar
  23. 23.
    Yavin, E. and Gatt, S. Enzymatic hydrolysis of sphingolipids. VIII. Further purification and properties of rat brain ceramidase. Biochemistry 8: 1692–1698, 1969PubMedCrossRefGoogle Scholar
  24. 24.
    Sribney, M. Enzymatic synthesis of ceramide. Biochim. Biophys. Acta. 125: 542–547, 1966PubMedGoogle Scholar
  25. 25.
    Sugita, M., Williams, M., Dulaney, J. T. and Moser, H. W. Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase. Biochim. Biophys. Acta. 398: 125–131, 1975PubMedGoogle Scholar
  26. 26.
    Nilsson, A. The presence of sphingomyelin-and ceramidecleaving enzymes in the small intestinal tract. Biochim. Biophys. Acta 176: 339–347, 1969PubMedGoogle Scholar

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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