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Neurochemical Aspects of Mucopolysaccharidoses

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Handbook of Neurochemistry

Abstract

Mucopolysaccharidoses are defined in this chapter as inherited disorders, which result in the abnormal accumulation of mucopolysaccharides or glycoproteins in the body. This definition, somewhat broader than conventional, is adopted because the line between mucopolysaccharides and glycoprotein is becoming more and more obscure, and because there are disorders of glycoprotein metabolism which will not otherwise be covered in the Handbook. Several excellent reviews describe the chemistry and biochemistry of mucopolysaccharides and glycoproteins(1–8)

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References

  1. R. W. Jeanloz and E. A. Balazs, eds., The Amino Sugars, Vols. I A,B-II A,B, Academic Press, New York (1965–1970).

    Google Scholar 

  2. G. J. Dutton, ed., Glucuronic Acid, Free and Combined, Academic Press, New York (1966).

    Google Scholar 

  3. M. Stacey and S. A. Barker, eds., Carbohydrates of Living Tissues, D. van Nostrand Co., London (1962).

    Google Scholar 

  4. J. S. Brimacombe and J. M. Webber, Mucopolysaccharides, Chemical Structure, Distribution and Isolation, Elsevier Pub. Co., Amsterdam (1964).

    Google Scholar 

  5. A. Gottschalk, ed., Glycoproteins, Their Composition, Structure and Function, Elsevier Pub. Co., Amsterdam (1966).

    Google Scholar 

  6. U. R. Margolis, in Handbook of Neurochemistry (A. Lajtha, ed.) Vol. 1, pp. 245–260, Plenum Press, New York (1969).

    Google Scholar 

  7. Ginsburg and E. F. Neufeld, Complex heterosaccharides of animals, Ann. Rev. Biochem. 38: 371–388 (1969).

    Article  PubMed  Google Scholar 

  8. K. Meyer, Biochemistry and biology of mucopolysaccharides, Am. J. Med. 47: 664–672 (1969).

    Article  PubMed  CAS  Google Scholar 

  9. V. A. McKusick, D. Kaplan, D. Wise, W. B. Hanley, S. B. Suddarth, M. E. Sevick, and A. E. Maumanee, The genetic mucopolysaccharidoses, Medicine 44: 445–483 (1965).

    Article  PubMed  CAS  Google Scholar 

  10. J. G. Leroy and A. C. Crocker, Clinical definition of the Hurler-Hunter phenotypes, Am. J. Dis. Child. 112: 518–530 (1966).

    PubMed  CAS  Google Scholar 

  11. H. E. Williams, Heritable disorders of mucopolysaccharide metabolism, Calif. Med. 106: 306–311 (1967).

    PubMed  CAS  Google Scholar 

  12. H. Muir, The structure and metabolism of mucopolysaccharides (glycosaminoglycans) and the problem of mucopolysaccharidoses, Am. J. Med. 47: 673–690 (1969).

    Article  PubMed  CAS  Google Scholar 

  13. A. Dorfman and R. Matalon, The Hurler and Hunter syndrome, Am. J. Med. 47: 691–707 (1969).

    Article  PubMed  CAS  Google Scholar 

  14. B. S. Danes and H. Grossman, Bone dysplasias, including Morquio’s syndrome, studied in skin fibroblast cultures, Am. J. Med. 47: 708–720 (1969).

    Article  PubMed  CAS  Google Scholar 

  15. D. Kaplan, Classification of the mucopolysaccharidoses based on the pattern of muco-polysacchariduria, Am. J. Med. 47: 721–729 (1969).

    Article  PubMed  CAS  Google Scholar 

  16. V. A. McKusick, The nosology of the mucopolysaccharidoses, Am. J. Med. 41: 730–141 (1969).

    Article  Google Scholar 

  17. A. Dorfman, in The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaaden, and D. S. Frederickson, eds.) 2nd ed., pp. 963–994, McGraw-Hill, New York (1966).

    Google Scholar 

  18. J. W. Spranger, Biochemical definition of the mucopolysaccharidoses, Z. Kinderheilk. 108: 17–31 (1970).

    Article  PubMed  CAS  Google Scholar 

  19. J. W. Spranger and H.-R. Wiedemann, The genetic mucolipidoses, diagnosis and differential diagnosis, Humangenetik 9: 113–139 (1970).

    Article  PubMed  CAS  Google Scholar 

  20. P. Durand, C. Borrone, and G. Delia Cella, Fucosidosis, J. Pediat. 75: 665–674 (1969).

    Article  PubMed  CAS  Google Scholar 

  21. H. Loeb, M. Tondeur, G. Jonniaux, S. Mockel-Pohl, and E. Vamos-Hurwitz, Biochemical and ultrastructural studies in a case of mucopolysaccharidosis “F” (Fucosidosis), Helv. Paediat. Acta 24: 519–537 (1969).

    PubMed  CAS  Google Scholar 

  22. B. Kjellman, I. Gamstorp, A. Brun, P.-A. Öckerman, and B. Palmgren, Mannosidosis: A clinical and histopathologic study, J. Pediat. 75: 366–373 (1969).

    Article  PubMed  CAS  Google Scholar 

  23. P.-A. Öckerman, Mannosidosis: Isolation of oligosaccharide storage material from brain, J. Pediat. 75: 360–365 (1969).

    Article  PubMed  Google Scholar 

  24. G. Brante, Gargoylism. A mucopolysaccharidosis, Scand. J. Clin. Lab. Invest. 4: 43–46 (1952).

    Article  PubMed  CAS  Google Scholar 

  25. K. Meyer, P. Hoffman, A. Linker, M. M. Grumbach, and P. Sampson, Sulfated mucopolysaccharides of urine and organs in gargoylism (Hurler’s syndrome) II. Additional studies, Proc. Soc. Exp. Biol. Med. 102: 587–590 (1959).

    CAS  Google Scholar 

  26. K. Meyer and P. Hoffman, Hurler’s syndrome, Arthritis and Rheumat. 4: 552–560 (1961).

    Article  CAS  Google Scholar 

  27. N. K. Gonatas and J. Gonatas, Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism, J. Neuropath. Exp. Neurol. 24: 318–340 (1965).

    Article  PubMed  CAS  Google Scholar 

  28. Z. Dische, in Methods in Carbohydrate Chemistry (R. L. Whistler and M. L. Wolfrom, eds.) Vol. 1, pp. 497–501, Academic Press, New York (1962).

    Google Scholar 

  29. J. Clausen, H. V. Dyggve, J. C. Melchior, and H. O. Christensen Lou, Chemical studies in gargoylism, Arch. Dis. Childh. 42: 62–69 (1967).

    Article  PubMed  CAS  Google Scholar 

  30. C. Friman, Hurler’s syndrome, lack of acid mucopolysaccharides in the cerebrospinal fluid, Clin. Chim. Acta 15: 378–380 (1967).

    Article  Google Scholar 

  31. G. Constantopoulos and A. S. Dekaban, Acid mucopolysaccharides in the cerebrospinal fluid of patients with Hunter-Hurler’s syndrome, J. Neurochem. 17: 117–120 (1970).

    Article  PubMed  CAS  Google Scholar 

  32. G. Brante, in Cerebral Lipidoses (J. N. Cumings, ed.) pp. 164–184, Blackwell, Oxford (1957).

    Google Scholar 

  33. E. Klenk, in Biochemistry of the Developing Nervous System (H. Waelsch, ed.) pp. 397–410, Academic Press, New York (1955).

    Google Scholar 

  34. L. L. Uzman, Chemical nature of the storage substance in Gargoylism, Arch. Path. 60: 308–318 (1955).

    CAS  Google Scholar 

  35. E. Klenk, Die Chemie der Lipidosen und der Entmarkungskrankheiten, Wien. Z. Nervenh. 13: 309–322 (1957).

    CAS  Google Scholar 

  36. A. H. Tingey, The results of glycolipid analysis in certain types of lipidosis and leucodys-trophy, J. Neurochem. 3: 230–237 (1959).

    Article  PubMed  CAS  Google Scholar 

  37. K. Suzuki, in Inborn Disorders of Sphingolipid Metabolism (S. M. Aronson and B. W. Volk, eds.) pp. 215–230, Pergamon Press, Oxford (1967).

    Google Scholar 

  38. P. F. Borri and G. J. M. Hooghwinkel, Comparative studies of glycolipids and carbohydrate moieties in brain and visceral organs in amaurotic idiocy and gargoylism, Path. Europ. 3: 416–423 (1968).

    CAS  Google Scholar 

  39. H. Loeb, G. Jonniaux, A. Resibois, N. Cremer, J. Dodion, M. Tondeur, P. E. Gregoire, J. Richard, and P. Cieters, Biochemical and ultrastructural studies in Hurler’s syndrome, J. Pediat. 73: 860–874 (1968).

    Article  PubMed  CAS  Google Scholar 

  40. J. R. Wherrett, Analysis of glycolipids in the Hurler syndrome, Path. Europ. 3: 431–439 (1968).

    CAS  Google Scholar 

  41. A. Taghavy, K. Salsman, and R. Ledeen, An abnormal ganglioside pattern from a gargoyl brain, Fed. Proc. 23: 128 (1964).

    Google Scholar 

  42. R. Ledeen, K. Salsman, J. Gonatas, and A. Taghavy, Structure comparison of the major monosialogangliosides from brains of normal human, gargoylism and late infantile systemic lipidosis, J. Neuropath. Exp. Neurol. 24: 341–351 (1965).

    Article  PubMed  CAS  Google Scholar 

  43. P. F. Borri, G. J. M. Hooghwinkel, and G. W. F. Edgar, Brain ganglioside pattern of three forms of amaurotic idiocy and in gargoylism, J. Neurochem. 13: 1249–1256 (1966).

    Article  PubMed  CAS  Google Scholar 

  44. L. Svennerholm, Chromatographic separation of human brain gangliosides, J. Neurochem. 10: 613–623 (1963).

    Article  PubMed  CAS  Google Scholar 

  45. D. A. Booth, H. Goodwin, and J. N. Cumings, Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick disease, and gargoylism, J. Lipid Res. 7: 337–340 (1966).

    PubMed  CAS  Google Scholar 

  46. T. Taketomi and T. Yamakawa, Glycolipids of the brain in gargoylism, Jap. J. Exp. Med. 37: 11–21 (1967).

    PubMed  CAS  Google Scholar 

  47. F. P. Aleu, R. D. Terry, and H. Zellweger, Electron microscopy of two cerebral biopsies in gargoylism, J. Neuropath. Exp. Neurol. 24: 304–317 (1965).

    Article  PubMed  CAS  Google Scholar 

  48. D. Lagunoff and T. L. Gritzka, The site of mucopolysaccharide accumulation in Hurler’s syndrome. An electron microscopic and histochemical study, Lab. Invest. 15: 1578–1588 (1966).

    PubMed  CAS  Google Scholar 

  49. M. D. Haust, M. Orizaga, A. M. Bryans, and H. F. Frank, The fine structure of liver in children with Hurler’s syndrome, Exp. Molec. Path. 10: 141–161 (1969).

    Article  PubMed  CAS  Google Scholar 

  50. H. G. Hers and F. van Hoof, Genetic abnormalities of lysosomes, in Lysosomes in Biology and Pathology (J. T. Dingle and H. B. Fell, eds.) Vol. 2, pp. 19–40, North Holland Publishing Co., Amsterdam (1969).

    Google Scholar 

  51. F. van Hoof and H. G. Hers, The abnormalities of lysosomal enzymes in mucopolysaccharidoses, Europ. J. Biochem. 7: 34–44 (1968).

    Article  PubMed  Google Scholar 

  52. J. J. van Gemund, M. A. H. Giesberts, M. C. B. Gorsira, and R. G. J. Willighagen, Deficiency of 4-methylumbelliferyl-β-galactosidase activity in the liver of seven patients with Hurler’s disease, Maandschr. Kindergeneesk. 36: 377–383 (1968).

    Google Scholar 

  53. P.-A. Öckerman, Lysosomal acid hydrolases in the liver in gargoylism. Deficiency of 4-methylumbelliferyl-β-galactosidase, Scand. J. Clin. Lab. Invest. 22: 142–146 (1968).

    Article  PubMed  Google Scholar 

  54. M. MacBrinn, S. Okada, M. Woollacott, V. Patel, M. W. Ho, A. L. Tappel, and J. S. O’Brien, Beta-Galactosidase deficiency in the Hurler syndrome, New Eng. J. Med. 281: 338–343 (1969).

    Article  PubMed  CAS  Google Scholar 

  55. P.-A. öckerman, Acid hydrolases in skin and plasma in gargoylism. Deficiency of β-galactosidase in skin, Clin. Chim. Acta 20: 1–6 (1968).

    Article  PubMed  Google Scholar 

  56. P.-A. Öckerman and P. Köhlin, Glycosidases in skin and plasma in Hunter’s syndrome, Acta Paediat. Scand. 57: 281–284 (1968).

    Article  PubMed  Google Scholar 

  57. J. E. Gerich, Hunter’s syndrome, beta-galactosidase deficiency in skin, New Eng. J. Med. 280: 799–802 (1969).

    Article  PubMed  CAS  Google Scholar 

  58. P.-A. Öckerman, B. Hultberg, and Ö. Eriksson, Enzyme patterns in tissues and body fluids in mucopolysaccharidoses, Clin. Chim. Acta 25: 97–102 (1969).

    Article  PubMed  Google Scholar 

  59. P.-A. Öckerman and B. Hultberg, Fractionation of 4-methylumbelliferyl-β-galactosidase activities in liver in gargoylism, Scand. J. Clin. Lab. Invest. 22: 199–202 (1968).

    Article  PubMed  Google Scholar 

  60. M. W. Ho and J. S. O’Brien, Hurler’s syndrome: deficiency of a specific beta-galactosidase isoenzyme, Science 165: 611–613 (1969).

    Article  PubMed  CAS  Google Scholar 

  61. K. Suzuki, Cerebral GM1-gangliosidosis: chemical pathology of visceral organs, Science 159: 1471–1472 (1968).

    Article  PubMed  CAS  Google Scholar 

  62. B. Hultberg, P.-A. Öckerman, and A. Dahlqvist, Gargoylism: hydrolysis of β-galactosides and tissue accumulation of galactose-and mannose-containing compounds, J. Clin. Invest. 49: 214–224 (1970).

    Article  Google Scholar 

  63. V. Patel, A. L. Tappel, and J. S. O’Brien, Hyaluronidase and sulfatase deficiency in Hurler’s syndrome, Biochem. Med. 3: 447–457 (1970).

    Article  PubMed  CAS  Google Scholar 

  64. J. C. Fratantoni, C. W. Hall, and E. F. Neufeld, The defect in Hurler’s and Hunter’s syndromes: Faulty degradation of mucopolysaccharide, Proc. Nat. Acad. Sci. 60: 699–706 (1968).

    Article  PubMed  CAS  Google Scholar 

  65. J. C. Fratantoni, C. W. Hall, and E. F. Neufeld, Hurler and Hunter syndromes: Mutual correction of the defect in cultured fibroblasts, Science 162: 570–572 (1968).

    Article  PubMed  CAS  Google Scholar 

  66. J. C. Fratantoni, C. W. Hall, and E. F. Neufeld, The defect in Hurler and Hunter syndromes, II. Deficiency of specific factors involved in mucopolysaccharide degradation, Proc. Nat. Acad. Sci. 64: 360–366 (1969).

    Article  PubMed  CAS  Google Scholar 

  67. M. Cantz, A. Chrambach, and E. F. Neufeld, Characterization of the factor deficient in the Hunter syndrome by Polyacrylamide gel electrophoresis, Biochem. Biophys. Res. Commun. 39: 936–942 (1970).

    Article  PubMed  CAS  Google Scholar 

  68. E. F. Neufeld and J. C. Fratantoni, Inborn errors of mucopolysaccharide metabolism, Science 169: 141–146 (1970).

    Article  PubMed  CAS  Google Scholar 

  69. J. C. Fratantoni, E. F. Neufeld, W. Uhlendorf, and C. B. Jacobson, Intrauterine diagnosis of the Hurler and Hunter syndromes, New Eng. J. Med. 280: 686–688 (1969).

    Article  PubMed  CAS  Google Scholar 

  70. B. J. Wallace, D. Kaplan, M. Adachi, L. Schneck, and B. W. Volk, Mucopolysaccharidosis type III. Morphologic and biochemical studies of two siblings with Sanfilippo syndrome, Arch. Path. 82: 462–473 (1966).

    PubMed  CAS  Google Scholar 

  71. U. Wiesmann and E. F. Neufeld, Scheie and Hurler syndromes: Apparent identity of the biochemical defect, Science 169: 72–74 (1970).

    Article  PubMed  CAS  Google Scholar 

  72. B. H. Landing, F. N. Silverman, J. M. Craig, M. D. Jacoby, M. E. Lahey, and D. L. Chadwick, Familial neurovisceral lipidosis, Am. J. Dis. Child. 108: 503–522 (1964).

    PubMed  CAS  Google Scholar 

  73. J. S. O’Brien, M. B. Stern, B. H. Landing, J. K. O’Brien, and G. N. Donnell, Generalized gangliosidosis, another inborn error of ganglioside metabolism? Am. J. Dis. Child. 109: 338–346 (1965).

    PubMed  Google Scholar 

  74. K. Suzuki, K. Suzuki, and G. C. Chen, Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis) J. Neuropath. Exp. Neurol. 27: 15–38 (1968).

    Article  PubMed  CAS  Google Scholar 

  75. K. Suzuki, K. Suzuki, and S. Kamoshita, Chemical pathology of GM1-gangliosidosis (generalized gangliosidosis) J. Neuropath. Exp. Neurol. 28: 25–73 (1969).

    Article  PubMed  CAS  Google Scholar 

  76. J. S. O’Brien, Generalized gangliosidosis, J. Pediat. 75: 167–186 (1969).

    Article  PubMed  Google Scholar 

  77. K. Suzuki and G. C. Chen, Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis) J. Lipid Res. 8: 105–113 (1967).

    PubMed  CAS  Google Scholar 

  78. H. Jatzkewitz, H. Pilz, and K. Sandhoff, Quantitative Bestimmungen von Gangliosiden und ihren Neuraminsäurefreien Derivaten bei Infantilen, Juvenilen und Adulten Formen der Amaurotischen Idiote und einer Spätinfantilen Biochemischen Sonderform, J. Neuro-chem. 12: 135–144 (1965).

    CAS  Google Scholar 

  79. R. M. Norman, H. Urich, A. H. Tingey, and R. A. Goodbody, Tay-Sachs disease with visceral involvement and its relationship to Niemann-Pick’s disease, J. Path. Bact. 78: 409–421 (1959).

    Article  PubMed  CAS  Google Scholar 

  80. Y. Suzuki, A. C. Crocker, and K. Suzuki, GM1-gangliosidosis: Correlation of clinical and biochemical data, Arch. Neurol. 24: 58–64 (1971).

    Article  PubMed  CAS  Google Scholar 

  81. L. S. Wolfe, J. Callahan, J. S. Fawcett, F. Andermann, and C. R. Scriver, GM1-Gangliosidosis without chondrodystrophy or visceromegaly. β-Galactosidase deficiency with gangliosidosis and excessive excretion of keratan sulfate, Neurology 20: 23–51 (1970).

    PubMed  CAS  Google Scholar 

  82. S. Okada and J. S. O’Brien, Generalized gangliosidosis: Beta-galactosidase deficiency, Science 160: 1002–1004 (1968).

    Article  PubMed  CAS  Google Scholar 

  83. G. Dacremont and J. A. Kint, GM1-ganghoside accumulation and β-galactosidase deficiency in a case of GM1-gangliosidosis (Landing’s disease) Clin. Chim. Acta 21: 421–425 (1968).

    Article  PubMed  CAS  Google Scholar 

  84. H. R. Sloan, B. W. Uhlendorf, C. B. Jacobson, and D. S. Frederickson, β-Galactosidase in tissue culture derived from human skin and bone marrow: Enzyme defect in GM1-gangliosidosis, Pediat. Res. 3: 532–537 (1969).

    Article  PubMed  CAS  Google Scholar 

  85. G. H. Thomas, β-D-Galactosidase in human urine: Deficiency in generalized gangliosidosis, J. Lab. Clin. Med. 74: 725–731 (1969).

    PubMed  CAS  Google Scholar 

  86. M. C. MacBrinn, S. Okada, M. W. Ho, C. C. Hu, and J. S. O’Brien, Generalized gangliosidosis: Impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein, Science 163: 946–947 (1969).

    Article  PubMed  CAS  Google Scholar 

  87. J. S. O’Brien, Five gangliosidoses, Lancet 2: 805 (1969).

    Article  PubMed  Google Scholar 

  88. P.-A. öckerman, A generalized storage disorder resembling Hurler’s syndrome, Lancet 2: 239–241 (1967).

    Article  Google Scholar 

  89. J. H. Austin, in Medical Aspects of Mental Retardation (C. H. Carter, ed.) pp. 768–812, C. C. Thomas, Springfield, 111. (1965).

    Google Scholar 

  90. M. Bischel, J. Austin, and M. Kemeny, Metachromatic leucodystrophy. VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissue, Arch. Neurol. 15: 13–28 (1966).

    Article  PubMed  CAS  Google Scholar 

  91. S. Thieffry, G. Lyon, and P. Maroteaux, Leucodystrophie métachromatique (sulfatidose) et mucopolysaccharidose associées chez un méme malade, Rev. Neurol. 114: 193–200 (1966).

    PubMed  CAS  Google Scholar 

  92. J. V. Murphy, H. J. Wolfe, E. A. Balazs, and H. W. Moser, in Lipid Storage Diseases: Enzymatic Defects and Clinical Implications (J. Bernsohn and H. J. Grossman, eds.) pp. 67–110, Academic Press, New York (1971).

    Google Scholar 

  93. J. Spranger, H.-R. Wiedemann, M. Tolksdorf, E. Graucob, and R. Caesar, Lipomucopoly-saccharidose, Eine neue Speicherkrankheit, Z. Kinderh. 103: 285–306 (1968).

    Article  CAS  Google Scholar 

  94. J. G. LeRoy and R. I. DeMars, Mutant for enzymatic and cytological phenotypes in cultured human fibroblasts, Science 157: 804–806 (1967).

    Article  Google Scholar 

  95. R. Matalon and A. Dorfman, The accumulation of hyaluronic acid in cultured fibroblasts of the Marfan syndrome, Biochem. Biophys. Res. Commun. 32: 150–154 (1968).

    Article  PubMed  CAS  Google Scholar 

  96. S. R. Korey and J. Gonatas, Separation of human brain gangliosides, Life Sci. 2: 296–302 (1963).

    Article  Google Scholar 

  97. M. R. Abramson, W. T. Norton, and R. Katzman, Study of ionic structures in phospholipids by infrared spectra, J. Biol. Chem. 240: 2389–2395 (1965).

    PubMed  CAS  Google Scholar 

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Suzuki, K. (1972). Neurochemical Aspects of Mucopolysaccharidoses. In: Lajtha, A. (eds) Handbook of Neurochemistry. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-7172-8_2

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