The Mucopolysaccharidoses as Lysosomal Diseases

  • F Van Hoof
  • H. G. Hers
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


In this paper, we briefly summarize the evidence that has accumulated during the recent years indicating that the diseases known as mucopolysaccharidoses are due to the primary defect of one acid hydrolase normally present in lysosomes.


Kupffer Cell Acid Hydrolase Lysosomal Hydrolase Cholesterol Sulfate Lysosomal Disease 
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  1. 1.
    Aleu, F.P., Terry, R.D. and Zellweger, H. Electron microscopy of two cerebral biopsies in gargoylism. J. Neuropath. Expt. Neurol. 24, 304, 1965.Google Scholar
  2. 2.
    Austin, J.H. Mental Retardation. Metachromatic Leucodystrophy (Sulfatide Lipidosis, Metachromatic, Leucoencephalopathy). In “Medical Aspects of Mental Retardation” (Ch. H. Carter, Ed.). C.C. Thomas, Springfield U.S.A., 768, 1965.Google Scholar
  3. 3.
    Dacremont, G. and Kint, J.A. GM1-ganglioside accumula-tion and ß-galactosidase deficiency in a case of GM1-gangliosidosis (Landing disease). Clin. Chim. Acta 21, 421, 1968.PubMedCrossRefGoogle Scholar
  4. 4.
    Hers, H.G. Inborn lysosomal diseases. Gastroenterology 48, 625, 1965.PubMedGoogle Scholar
  5. 5.
    Lagunoff, D., Ross R. and Benditt, H.P. Histochemical and electron microscopic study in a case of Hurler’s disease. Am. J. Path. 41, 273, 1962.PubMedGoogle Scholar
  6. 6.
    Landing, B.H., Silverman, F.N., Craig, J.M., Jacoby, M.D., Lahey, M.E. and Chadwick, D.L. Familial neurovisceral lipidosis. Am. J. Dis. Child 108, 503, 1964.PubMedGoogle Scholar
  7. 7.
    Ledeen, R., Saisman, K., Gonatas, J. and Taghavy, A. Structure comparison of the major monosialogangliosides from brains of normal human, gargoylism, and late infantile systemic lipidosis. Part I. J. Neuropathol. Exptl Neurol. 24, 341, 1965.CrossRefGoogle Scholar
  8. 8.
    Lee, R.E. The fine structure of the cerebroside occurring in Gaucher’s disease. Proc. Nat. Acad. Sci. 61, 484, 1968.PubMedCrossRefGoogle Scholar
  9. 9.
    Leroy, J.G. and DeMars, R.I. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 157, 804, 1967.PubMedCrossRefGoogle Scholar
  10. 10.
    Loeb, H., Tondeur, M., Jonniaux, G., Mockel-Pohl, S. and Vamos-Hurwitz, E. Biochemical and ultrastructural studies in a case of mucopolysaccharidosis “F” (fucosidosis). Heiv. Paediat. Acta 24, 519, 1969.Google Scholar
  11. 11.
    Loeb, H., Tondeur, M., Toppet, M. and Cremer, N. Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis. Acta Paediat. Scand. 58, 220, 1969.Google Scholar
  12. 12.
    Matalon, R., Cifonelli, J.A. and Dorfman, A. L-iduronidase in cultured human fibroblasts and liver. Biochem. Biophys. Res. Comm. 42, 340, 1971.PubMedCrossRefGoogle Scholar
  13. 13.
    McKusick, V.A., Kaplan, D., Wise, D., Hanley, W.B., Suddarth, S.B., Sevick, M.E. and Maumanee, A.E. The Genetic Mucopolysaccharidoses. Medicine 44, 445, 1965.PubMedCrossRefGoogle Scholar
  14. 14.
    Meyer, K., Bhavanandan, V.P., Yung, D., Lee, L.T. and Howe, C. The keratosulfate-like mucopolysaccharide of chick allantoic fluid. Proc. Nat. Acad. Sci. U.S. 58, 1655, 1967.Google Scholar
  15. 15.
    Murphy, J.V., Wolfe, H.J., Balazs, E.Â. and Moser, H. W. A patient with deficiency of arylsulfatases A, B, C and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans. In “Lipid Storage Diseases. Enzymatic defects and clinical implications ”(J. Bernsohn and H.J. Grossman, Eds). Academic Press, New York, 67, 1971.Google Scholar
  16. 16.
    Neufeld, E.F. Personal communication; see also this symposium.Google Scholar
  17. 17.
    Neufeld, E.F., Barton, R.W., Cantz, M., Derge, J.G., Hall, C.W. and Kresse, H. Deficiency of specific proteins in the mucopolysaccharidoses. This book, 1972.Google Scholar
  18. 18.
    Okada, S. and O’Brien, J.S. Generalized gangliosidosis: ß-galactosidase deficiency. Science 160, 1002, 1968.PubMedCrossRefGoogle Scholar
  19. 19.
    Panizon, F., Sartorelli, C. and Perona, G. La malattia di Morquio e la disostosi spondilo-metafisaria. Acta Paediat. Latina 21, 552, 1968.Google Scholar
  20. 20.
    Sacrez, R., Juif, J.G., Gigonnet, J.M. and Gruner, J. E. La maladie de Landing ou idiotie amaurotique infantile précoce avec gangliosidose généralisée de type GM1. Pédiatrie 22, 143, 1967.PubMedGoogle Scholar
  21. 21.
    Spranger, J., Wiedemann, H.R., Tolksdorf, M., Graucob, E. and Caesar, R. Lipomucopolysaccharidose. Eine neue Speicherkrankheit. Z. Kinderheilk. 103, 285, 1968.PubMedCrossRefGoogle Scholar
  22. 22.
    Suzuki, K. Ganglioside patterns of normal and pathological brains. In “Inborn disorders of sphingolipid metabolism” (S.M. Aronson and B.W. Volk, Eds). Perga-mon Press, New York, 215, 1967.Google Scholar
  23. 23.
    Suzuki, K. Cerebral GM1-gangliosidosis: chemical pathology of visceral organs. Science 159, 1471, 1968.PubMedCrossRefGoogle Scholar
  24. 24.
    Suzuki, K, Suzuki, K.and ChenG.C. GM1 -gangliosido-sis (generalized gangliosidosis). Mo?Olhology and chemical pathology. Path. Earop. 3, 389, 1968.Google Scholar
  25. 25.
    Taketomi, T. and Yamakawa, T. Glycolipids of the brain in gargoylism. Japan J. Expt. Med. 37, 11, 1967.Google Scholar
  26. 26.
    Tondeur, M. and Loeb, H. Etude ultrastructurelle du foie dans la maladie de Morquio. Pediat. Res. 3, 19, 1969.PubMedCrossRefGoogle Scholar
  27. 27.
    Van Hoof, F. and Hers, H.G. L’ultrastructure des cellules hépatiques dans la maladie de Hurler (Gargoylisme). C.R. Acad. Sci. Paris 259, 1281, 1964.Google Scholar
  28. 28.
    Van Hoof, F. and Hers, H.G. Quoted in Ref. 20, 1967.Google Scholar
  29. 29.
    Van Hoof, F. and Hers, H.G. L’ultrastructure du foie dans certaines thésaurismoses. Rev. Intern. Hépatol. 17, 815, 1967.Google Scholar
  30. 30.
    Van Hoof, F. and Hers, H.G. The abnormalities of Lysosomal enzymes in mucopolysaccharidoses. European J. Biochem. 7, 34, 1968.Google Scholar
  31. 31.
    Yunis, E.J. and Lee, R.E. Tubules of globoid leukodystrophy: a right-handed helix. Science, 169, 64, 1970.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • F Van Hoof
    • 1
  • H. G. Hers
    • 1
  1. 1.Laboratoire de Chimie PhysiologiqueUniversité de LouvainLouvainBelgium

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