Advertisement

Disorders of Mucopolysaccharide Metabolism

  • Gideon Bach

Abstract

The mucopolysaccharidoses are progressive disorders involving multiple organ systems and the excretion and storage of excess mucopolysaccharides (McKusick and Neufeld, 1982). The mode of inheritance is autosomal recessive for all except one, Hunter syndrome, where sex-linked inheritance is the rule. The abnormal storage is caused by the impairment of mucopolysaccharide catabolism, and specific hydrolase deficiencies account for the widely varying severity and phenotypes observed with these disorders. Fifteen types and subtypes of mucopolysaccharidoses have been characterized (Table I) (McKusick and Neufeld, 1982).

Keywords

Heparan Sulfate Prenatal Diagnosis Keratan Sulfate Hunter Syndrome Amniotic Fluid Cell 
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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Arbisser, A. L., Donnelly, K. A., Scott, C. I., et al., 1977, Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IV B, Am. J. Med. Genet. 32:258.Google Scholar
  2. Archer, I. M., Harper, P. S., and Wustman, F. S., 1981, An improved assay for iduronate-2-sulfate sulfatase in serum and its use in the detection of Hunter syndrome, Clin. Chim. Acta 112:107.PubMedCrossRefGoogle Scholar
  3. Archer, I. M., Rees, D. W., Oladimeji, A., et al., 1982, Detection of female carriers of Hunter syndrome: Comparison of serum and hair-root analysis, J. Inherited Metab. Dis. 5:15.CrossRefGoogle Scholar
  4. Bach, G., Friedman, R., Weissman, B., et al., 1972, The defect in the Hunter and Scheie syndromes: Deficiency of α-L-iduronidase, Proc. Natl. Acad. Sci. USA 69:2048.PubMedCrossRefGoogle Scholar
  5. Bach, G., Eisenberg, F., Jr., Cantz, M., et al., 1973, The defect in the Hunter syndrome: Deficiency of sulfoiduronate sulfatase, Proc. Natl. Acad. Sci. USA 70:2134.PubMedCrossRefGoogle Scholar
  6. Barton, R. W., and Neufeld, E. F., 1971, The Hurler corrective factor, J. Biol. Chem. 246:7773.PubMedGoogle Scholar
  7. Bartsocas, C. S., Papasotiriou, N., Karageorga, M., et al., 1973, Hunter’s syndrome and Cooley’s anemia in the same patient, Acta Paediatr. Scand. 62:66.PubMedCrossRefGoogle Scholar
  8. Beaudet, A. L., Diferrante, N., Ferry, G. D., et al., 1978, Variation in the phenotypic expression of β-glucuronidase deficiency, J. Pediatr. 86:388.Google Scholar
  9. Bell, C. E., Jr., Sly, W. S., and Brot, F. E., 1977, Human β-glucuronidase deficiency mucopolysaccharidosis: Identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay, J. Clin. Invest. 59:97.PubMedCrossRefGoogle Scholar
  10. Beratis, N. G., Turnes, B. M., Weiss, R., et al., 1975, Arylsulfatase B deficiency in Maroteaux, Lamy syndrome: Cellular studies and carrier identification, Pediatr. Res. 9:475.PubMedCrossRefGoogle Scholar
  11. Brown, F. R., Hall, C. W., Neufeld, E. F., et al., 1982, Administration of iduronate sulfatase by plasma exchange to patients with Hunter syndrome: A clinical study, Am. J. Med. Genet. 13:309.PubMedCrossRefGoogle Scholar
  12. Butterworth, J., 1978, Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells, J. Inherited Metab. Dis. 1:25.PubMedCrossRefGoogle Scholar
  13. Cantz, M., Kresse, H., Barton, R. W., et al., 1972, Corrective factors for inborn errors of mucopolysaccharide metabolism, Meth. Enzymol. 28:884.CrossRefGoogle Scholar
  14. Cantz, M., and Gehler, J., 1976, The mucopolysaccharidoses: Inborn errors of glycosaminoglycan cata-bolism, Hum. Genet. 32:323.CrossRefGoogle Scholar
  15. Capobianchi, M. R., and Romeo, G., 1976, Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter’s syndrome, Experientia 32:459.PubMedCrossRefGoogle Scholar
  16. Crawford, M. D’A., Dean, M. F., Hunt, D. M., et al., 1973, Early prenatal diagnosis of Hurler’s syndrome with termination of pregnancy and confirmatory findings on the fetus, J. Med. Genet. 10:144.CrossRefGoogle Scholar
  17. Dale, F., 1931, Unusual forms of familial osteochondrodystrophy, Acta Radiol. 12:337.CrossRefGoogle Scholar
  18. Danes, B. S., and Degnan, M., 1974, Different clinical and biochemical phenotypes associated with β-glucuronidase deficiency, Birth Defects Orig. Artic. Ser. X(12):251.Google Scholar
  19. Dean, M. F., 1983, The iduronate sulfatase activities of cells and tissue fluids from patients with Hunter syndrome and normal controls, J. Inherited M etab. Dis. 6:108.CrossRefGoogle Scholar
  20. Dean, M. F., Muir, H., Benson, P. F., et al., 1975, Increased breakdown of glycosaminoglycans and appearance of corrective enzyme after skin transplants in Hunter syndrome, Nature 257:609.PubMedCrossRefGoogle Scholar
  21. Dekaban, A. S., Holden, K. P., and Constantopoulos, G., 1972, Effects of fresh plasma or whole blood transfusions on patients with various types of mucopolysaccharidosis, Pediatrics 50:688.PubMedGoogle Scholar
  22. DiFerrante, N., Nichols, B. L., Donnelly, P. V., et al., 1971, Induced degradation of glycosaminoglycans in Hurler’s and Hunter’s syndromes by plasma infusion, Proc. Natl. Acad. Sci. USA 68:303.PubMedCrossRefGoogle Scholar
  23. DiFerrante, N., Hyman, B. H., Klish, W., et al., 1975, Mucopolysaccharidosis VI (Maroteaux-Lamy disease): Clinical and biochemical study of a mild variant case, Johns Hopkins Med. J. 135:42.Google Scholar
  24. DiFerrante, N., Ginsberg, L. C., Donnelly, P. V., et al., 1978, Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses, Science 199:79.PubMedCrossRefGoogle Scholar
  25. Dorfman, A., and Matalon, R., 1972, The mucopolysaccharidoses, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Frederickson, eds.), p. 1218, McGraw-Hill, New York.Google Scholar
  26. Dorfman, A., and Matalon, R., 1976, The mucopolysaccharidoses (a review), Proc. Natl. Acad. Sci. USA 73:2165.CrossRefGoogle Scholar
  27. Dulaney, J. T., Milunsky, A., and Moser, H. W., 1976, Detection of the carrier state of Hurler’s syndrome by assay of α-L-iduronidase in leukocytes, Clin. Chim. Acta 69:305.PubMedCrossRefGoogle Scholar
  28. Erickson, R. P., Sandman, R., Van B. Robertson, W., et al., 1972, Inefficacy of fresh frozen plasma therapy of mucopolysaccharidosis II, Pediatrics 50:693.PubMedGoogle Scholar
  29. Fluharty, A. L., Stevens, R. L., Sanders, D. L., et al., 1974, Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts, Biochem. Biophys. Res. Commun. 59:455.PubMedCrossRefGoogle Scholar
  30. Fortuin, J. J. H., and Kleijer, W. L., 1978, Pericellular glycosaminoglycans in cultured human cells: A possible source of error in prenatal diagnosis of mucopolysaccharidoses, Clin. Chim. Acta 82:79.PubMedCrossRefGoogle Scholar
  31. Fratantoni, J. C., Neufeld, E. F., Uhlendorf, B. W., et al., 1969, Intrauterine diagnosis of the Hurler and Hunter syndromes, N. Engl. J. Med. 280:686.PubMedCrossRefGoogle Scholar
  32. Frederik, P. M., Fortuin, J. J. H., Klepper, D., et al., 1977, Autoradiographic detection of mucopolysaccharide accumulation in single fibroblasts, Histochem. J. 9:89.PubMedCrossRefGoogle Scholar
  33. Gehler, J., Cantz, J., Tolksdorf, M., et al., 1974, Mucopolysaccharidosis VII (beta-glucuronidase deficiency), Humangenetik 23:149.PubMedGoogle Scholar
  34. Gibbs, D. A., Spellacy, E., Roberts, A. E., et al., 1980, The treatment of lysosomal storage diseases by fibroblast transplantation, in: Enzymatic Therapy in Genetic Disease 2 (R. J. Desnick, ed.), p. 457, Liss, New York.Google Scholar
  35. Gilles, F. H., and Deuel, R. K., 1971, Neuronal cytoplasmic flobules in the brain in Morquio’s syndrome, Arch. Neurol 25:393.PubMedCrossRefGoogle Scholar
  36. Gitzelman, R., Wiesmann, U. N., Spycher, M. A., et al., 1978, Unusually mild course of β-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII), Helv. Pediatr. Acta 33:413.Google Scholar
  37. Glaser, J. H., and Sly, W. S., 1973, β-Glucuronidase deficiency mucopolysaccharidosis: Methods for enzymatic diagnosis, J. Lab. Clin. Med. 82:969.PubMedGoogle Scholar
  38. Glober, G. A., Tanaka, K. R., Turner, J. A., et al., 1968, Mucopolysaccharidosis, an unusual cause of cardiac valvular disease, Am. J. Cardiol. 22:133.PubMedCrossRefGoogle Scholar
  39. Glossl, J., Truppe, W., and Kresse, H., 1979, Purification and properties of glucosamine-6-sulfate sulfatase from human placenta, Biochem. J. 181:37.PubMedGoogle Scholar
  40. Glossl, J., Maroteaux, P., DiNatale, P., et al., 1981, Different properties of residual N-acetylgalac-tosamine-6-sulfate sulfatase in fibroblasts (patients with mild and severe forms of Morquio disease, type A), Pediatr. Res. 15:976.CrossRefGoogle Scholar
  41. Gordon, B. A., Feleki, V., Budreau, C. H., et al., 1975, Defective heparan sulfate metabolism in the Sanfilippo syndrome and assay of this defect in the assessment of the mucopolysaccharidosis patient, Clin. Biochem. 8:184.PubMedCrossRefGoogle Scholar
  42. Greenwood, R. S., Hillman, R. E., Alcala, H., et al., 1978, Sanfilippo A syndrome in the fetus, Clin. Genet. 13:241.PubMedCrossRefGoogle Scholar
  43. Groebe, H., Krins, M., Schmidberger, H., et al., 1980, Morquio syndrome (mucopolysaccharidosis IV B) associated with β-galactosidase deficiency: Report of two cases, Am. J. Hum. Genet. 32:258.PubMedGoogle Scholar
  44. Hall, C. W., and Neufeld, E. F., 1973, α-L-Iduronidase activity in cultured skin fibroblasts and amniotic fluid cells, Arch. Biochem. Biophys. 158:817.PubMedCrossRefGoogle Scholar
  45. Hall, C. W., Cantz, M., and Neufeld, E. F., 1973, A β-glucuronidase deficiency mucopolysaccharidosis: Studies in cultured fibroblasts, Arch. Biochem. Biophys. 155:32.PubMedCrossRefGoogle Scholar
  46. Hall, C. W., Liebars, I., DiNatale, P., et al., 1978, Enzymic diagnosis of the genetic mucopolysaccharide storage disorders, Meth. Enzymol. 30:443.Google Scholar
  47. Harper, P.S., Bamforth, S., Rees, D., et al., 1984, Chorion biopsy for prenatal testing in Hunter syndrome, Lancet 2:812.PubMedCrossRefGoogle Scholar
  48. Haust, M. D., Gordon, B. A., Bryans, A. M., et al., 1971, Heparitin sulfate mucopolysaccharidosis (Sanfilippo disease): A case study with ultrastructural, biochemical, and radiological findings, Pediatr. Res. 5:137.CrossRefGoogle Scholar
  49. Hobbs, J. R., Hugh-Jones, K., Barrett, A. J., et al., 1981, Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone marrow transplantation, Lancet 2:709.PubMedCrossRefGoogle Scholar
  50. Hoogeveen, A. T., Graham-Kawashima, H., d’Azzo, A. et al., 1984, Processing of human β-galactosidase in GM, gangliosidosis and Morquio B syndrome, J. Biol. Chem. 259:1974.PubMedGoogle Scholar
  51. Hopwood, J. J., and Elliott, H., 1981, Radiolabelled oligosaccharides as substrates for the estimation of sulfamidase and the detection of Sanfilippo type A syndrome, Clin. Chim. Acta 112:55.PubMedCrossRefGoogle Scholar
  52. Hopwood, J. J., Muller, V., Smithson, A., et al., 1979a, A fluorometric assay using 4-methylum-belliveryl-α-L-iduronide for the estimation of α-L-iduronidase activity and the detection of Hurler and Scheie syndromes, Clin. Chim. Acta 92:257.PubMedCrossRefGoogle Scholar
  53. Hopwood, J. J., Muller, V., and Pollard, A. C., 1979b, Post and prenatal assessment of α-L-iduronidase deficiency with a radiolabeled natural substrate, Clin. Sci. 56:591.PubMedGoogle Scholar
  54. Horwitz, A. L., and Dorman, A., 1978, The enzymic defect in Morquio’s disease: The specificity of N-acetylhexosamine sulfatases, Biochem. Biophys. Res. Commun. 80:819.PubMedCrossRefGoogle Scholar
  55. Jolly, R. D., and Desnick, R. J., 1979, Inborn errors of lysosomal catabolism—Principles of heterozygote detection, Am. J. Med. Genet. 4:293.PubMedCrossRefGoogle Scholar
  56. Kajii, T., Matsuda, K., Osawa, T., et al., 1974, Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers, Clin. Genet. 6:394.PubMedCrossRefGoogle Scholar
  57. Karpati, G., Carpenter, S., Eisan, A. A., et al., 1974, Multiple peripheral nerve entrapments: An unusual phenotypic variant of the Hunter syndrome (mucopolysacchariodosis II) in a family, Arch. Neurol. 31:418.PubMedCrossRefGoogle Scholar
  58. Kelly, T. E., and Taylor, H. A., Jr., 1976, Leukocyte values of α-L-iduronidase in mucopolysaccharidosis I, J. Med. Genet. 13:149.PubMedCrossRefGoogle Scholar
  59. Kleijer, W. J., Wolffers, G. M., Hoogeveen, A., et al., 1976, Prenatal diagnosis of Maroteaux-Lamy syndrome, Lancet 2:50.PubMedCrossRefGoogle Scholar
  60. Klein, U., Kresse, H., and Von Figura, K., 1978, Sanfilippo syndrome type C: Deficiency of acetyl-CoA:α-glucosaminide-N-acetyltransferase in skin fibroblasts, Proc. Natl. Acad. Sci. USA 75:5185.PubMedCrossRefGoogle Scholar
  61. Knudson, A. G., Jr., DiFerrante, N., and Curtis, J. E., 1971, Effect of leukocyte transfusion in a child with type II mucopolysaccharidosis, Proc. Natl. Acad. Sci. USA 68:1738.PubMedCrossRefGoogle Scholar
  62. Kresse, H., 1973, Mucopolysaccharidosis III A (Sanfilippo disease): Deficiency of heparin sulfamidase in skin fibroblasts and leukocytes, Biochem. Biophys. Res. Commun. 54:1111.PubMedCrossRefGoogle Scholar
  63. Kresse, H., Von Figura, K., and Klein, U., 1978, New biochemical subtype of the Sanfilippo syndrome: Characterization of the storage material in cultured fibroblasts of Sanfilippo C patients, Eur. J. Biochem. 92:333.PubMedCrossRefGoogle Scholar
  64. Kresse, H., Paschke, E., Von Figura, K., et al., 1980, Sanfilippo disease type D; deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation, Proc. Natl. Acad. Sci. USA 77:6622.CrossRefGoogle Scholar
  65. Krivit, W., Pierpont, M. E., and Ayaz, K., et al. 1984, Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI), N. Engl. J. Med. 311(25): 1606.PubMedCrossRefGoogle Scholar
  66. Leroy, J. G., and Crocker, A. C., 1966, Clinical definition of the Hurler-Hunter phenotypes: A review of 50 patients, Am. J. Dis. Child. 112:518.PubMedGoogle Scholar
  67. Lichenstein, J. R., Bilbrey, G. L., and McKusick, V. A., 1972, Clinical and probable genetic heterogeneity within mucopolysaccharidosis II: Report of a family with a mild form, Johns Hopkins Med. J. 131:425.Google Scholar
  68. Liebaers, I., and Neufeld, E. F., 1976, Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts— Simplified diagnosis of the Hunter syndrome, Pediatr. Res. 10:733.PubMedGoogle Scholar
  69. Liebaers, I., DiNatale, P., and Neufeld, E. F., 1977, Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the Hunter syndrome, J. Pediatr. 90:423.PubMedCrossRefGoogle Scholar
  70. Liem, K. O., and Hooghwinkel, G. J., 1975, The use of α-iduronidase activity in leukocytes for the detection of Hurler and Scheie syndromes, Clin. Chim. Acta 60:259.PubMedCrossRefGoogle Scholar
  71. Liem, K. O., Giesberts, A. H., van de Kamp, J. J. P., et al., 1976, Sanfilippo B disease in two related sibships: Biochemical studies in patients, parents and sibs, Clin. Genet. 10:273.PubMedCrossRefGoogle Scholar
  72. Lowry, R. B., and Renwick, D. H. G., 1971, The relative frequency of the Hurler and Hunter syndromes, N. Engl. J. Med. 284:221.PubMedGoogle Scholar
  73. Lykkelund, C., Sondergaard, F., Therkelsen, A. J., et al., 1983, Feasibility of first trimester prenatal diagnosis of Hunter syndrome, Lancet 2:1147.PubMedCrossRefGoogle Scholar
  74. Lyon, G., Rosenberg, S., and Thieffry, St., 1971, Une forme rare de mucopolysaccharidose chez l’enfant: A rapprocher du “Hurler tardif” et du “syndrome de Scheie,” Arch. Fr. Pediatr. 28:83.PubMedGoogle Scholar
  75. Maroteaux, P., Leveque, B., Marie, J., et al., 1963, Une nouvelle dysotose avec elimination urinarie de chondroitine-sulfate B, Press Med. 71:1849.PubMedGoogle Scholar
  76. Matalon, R., and Dorfman, A., 1972, Hurler’s syndrome: An α-L-iduronidase deficiency, Biochem. Biophys. Res. Commun. 47:959.PubMedCrossRefGoogle Scholar
  77. Matalon, R., and Dorfman, A., 1974, Sanfilippo A syndrome: Sulfamidase deficiency in cultured skin fibroblasts and liver, J. Clin. Invest. 54:905.CrossRefGoogle Scholar
  78. Matalon, R., Arbogast, B., Justice, P., et al., 1974, Morquio’s syndrome: Deficiency of a chondroitin sulfate N-acetyl hexosamine sulfate sulfatase, Biochem. Biophys. Res. Commun. 61:759.PubMedCrossRefGoogle Scholar
  79. McKusick, V. A., 1972, Heritable Disorders of Connective Tissue, 4th ed., Mosby, St. Louis.Google Scholar
  80. McKusick, V. A., 1978, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant Autosomal Recessive and X-Linked Phenotypes, 5th ed., Johns Hopkins University Press, Baltimore.Google Scholar
  81. McKusick, V. A., and Neufeld, E. F., 1982, The mucopolysaccharide storage diseases, in: The Metabolic Basis of Inherited Disease, 5th ed. (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, et al., eds.), p. 751, McGraw-Hill, New York.Google Scholar
  82. McKusick, V. A., Neufeld, E. F., and Kelly, T. E., 1978, The mucopolysaccharide storage diseases, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds.), p. 1282, McGraw-Hill, New York.Google Scholar
  83. Migeon, B. R., Sprenkle, J. A., Liebaers, I., et al., 1977, X-linked Hunter syndrome: The heterozygous phenotype in cell culture, Am. J. Hum. Genet. 29:448.PubMedGoogle Scholar
  84. Mikkelson, M., Sonergaard, F. T., Tonnesen, T., et al., 1984, First trimester biopsies of chorionic villi for prenatal diagnosis: Experience of two laboratories, Clin. Genet. 26:263.CrossRefGoogle Scholar
  85. Milunsky, A., and Neufeld, E. F., 1973, The Hunter syndrome in a 46 XX girl, N. Engl. J. Med. 288:106.PubMedCrossRefGoogle Scholar
  86. Moser, H. W., O’Brien, J. S., Atkins, L., et al., 1974, Infusion of normal HL-A identical leukocytes in Sanfilippo disease type B: Estimate of infused cell survival by assays of α-N-acetylglucosaminidase activity and cytogenetic techniques: Effect of glycosaminoglycan excretion in the urine, Arch Neurol. 31:329.PubMedCrossRefGoogle Scholar
  87. Mossman, J., Blunt, S., Stephens, R., et al., 1983, Hunter’s disease in a girl: Association with X:5 chromosome translocation disrupting the Hunter gene, Arch. Dis. Child. 58:911.PubMedCrossRefGoogle Scholar
  88. Myerowitz, R., and Neufeld, E. F., 1981, Maturation of α-L-iduronidase in cultured human fibroblasts, J. Biol. Chem. 256:3044.PubMedGoogle Scholar
  89. Neufeld, E. F., Liebaers, L, and Lim, T. W., 1976, Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state, in: Current Trends in Sphingolipidoses and Allied Disorders, Vol. 68 (B. W. Volk and L. Schneck, eds.), p. 253, Plenum Press, New York.Google Scholar
  90. Neufeld, E. F., Liebaers, I., Epstein, C. J., et al., 1977, The Hunter syndrome in females: Is there an autosomal recessive form of iduronate sulfatase deficiency?, Am. J. Hum. Genet. 29:455.PubMedGoogle Scholar
  91. Nwokoro, N., and Neufeld, E. F., 1979, Detection of Hunter heterozygotes by enzymatic analysis of hair roots, Am. J. Hum. Genet. 31:42.PubMedGoogle Scholar
  92. O’Brien, J. S., 1972, Sanfilippo syndrome: Profound deficiency of alpha-acetyl-glucosaminidase activity in organs and skin fibroblasts from type B patients, Proc. Natl. Acad. Sci. USA 69:1720.PubMedCrossRefGoogle Scholar
  93. O’Brien, J. S., Cantz, M., and Spranger, J., 1974, Maroteaux-Lamy disease (mucopolysaccharidosis VI) subtype A: Deficiency of N-acetyl-galactosamine-4-sulfatase, Biochem. Biophys. Res. Commun. 60:1170.PubMedCrossRefGoogle Scholar
  94. Omura, K., Higami, S., and Tada, K., 1976, α-L-Iduronidase activity in leukocytes: Diagnosis of homozygotes and heterozygotes of the Hurler syndrome, Eur. J. Pediatr. 122:103.PubMedCrossRefGoogle Scholar
  95. Paschke, E., and Kresse, H., 1982, Morquio disease type B: Activation of GM1 activator protein, Biochem. Biophys. Res. Commun. 109:568.PubMedCrossRefGoogle Scholar
  96. Peterson, D. I., Bacchus, A., Seaich, L., et al., 1975, Myelopathy associated with Maroteaux-Lamy syndrome, Arch. Neurol. 32:127.PubMedCrossRefGoogle Scholar
  97. Pilz, H., Von Figura, K., and Goebel, H. H., 1978, Deficiency of arylsulfatase B in two brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B), Ann. Neurol. 6:315.CrossRefGoogle Scholar
  98. Poenaru, L., Castelnau, L., Mossman, J., et al., 1982, Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (β-glucuronidase deficiency), Prenat. Diagn. 2:251.PubMedCrossRefGoogle Scholar
  99. Quigley, H. A., and Kenyon, K. R., 1974, Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype), Am. J. Ophthalmol. 77:809.PubMedGoogle Scholar
  100. Sanfilippo, S. J., Posodin, R., Langer, L. O., Jr., et al., 1963, Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type), J. Pediatr. 63:837.CrossRefGoogle Scholar
  101. Schaap, T., and Bach, G., 1981, The incidence of mucopolysaccharidoses in Israel: Is Hunter’s disease a “Jewish disease”?, Hum. Genet. 56:221.CrossRefGoogle Scholar
  102. Sewell, A. C., Gehler, J., Mittermaier, G., et al., 1982, Mucopolysaccharidosis type VII (β-glucuronidase deficiency): A report of a new case and a survey of those in the literature, Clin. Genet. 21:366.PubMedCrossRefGoogle Scholar
  103. Shapira, E., De Gregorio, R. P., Matalon, R., et al., 1975, Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome, Biochem. Biophys. Res. Commun. 62:448.PubMedCrossRefGoogle Scholar
  104. Simoni, G., Brambah, B., Danesino, C., et al., 1983, Efficient direct chromosome analyses from chorionic villi samples in the first trimester of pregnancy, Hum. Genet. 63:349.PubMedCrossRefGoogle Scholar
  105. Singh, J., DiFerrante, N., Niebes, P., et al., 1976, N-Acetylgalactosamine-6-sulfate sulfatase in man: Absence of the enzyme in Morquio disease, J. Clin. Invest. 57:1036.Google Scholar
  106. Sjoberg, I., Fransson, L. A., Matalon, R., et al., 1973, Hunter’s syndrome: A deficiency of L-iduronate-sulfate sulfatase, Biochem. Biophys. Res. Commun. 54:1125.PubMedCrossRefGoogle Scholar
  107. Sly, W. S., Quinton, B. A., McAlister, W. H., et al., 1973, Beta-glucuronidase deficiency: Report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis, J. Pediatr. 82:249.PubMedCrossRefGoogle Scholar
  108. Spranger, J., 1972, The systemic mucopolysaccharidoses, Ergeh. Inn. Med. Kinderheilk. 32:165.Google Scholar
  109. Spranger, J., Koch, F., and McKusick, V. A., 1970, Mucopolysaccharidosis VI (Maroteaux-Lamy’s disease), Helv. Paediatr. Acta 25:337.PubMedGoogle Scholar
  110. Spranger, J., Cantz, M., Gehler, J., et al., 1978, Mucopolysaccharidosis II (Hunter disease) with corneal opacities: Report of two patients at the extremes of a wide clinical spectrum, Eur. J. Pediatr. 129:11.PubMedCrossRefGoogle Scholar
  111. Stevenson, R. E., Howell, R. R., McKusick, V. A., et al., 1976, The iduronidase deficiency mucopolysaccharidoses—Clinical and roentgenographic studies, Pediatrics 57:111.PubMedGoogle Scholar
  112. Stirling, J. L., Robinson, D., Fensom, A. H., et al., 1978, Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes, Lancet 1:147.PubMedCrossRefGoogle Scholar
  113. Stumpf, D. A., Austin, J. H., Crocker, A. C., et al., 1973, Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): Arylsulfatase B deficiency in tissues, Am. J. Dis. Child. 126:141.Google Scholar
  114. Swift, T. R., and McDonald, T. F., 1976, Peripheral nerve involvement in Hunter syndrome (mucopolysaccharidosis II), Arch Neurol. 33:845.PubMedCrossRefGoogle Scholar
  115. Tonnesen, T., Lykkelund, C., and Guttler, F., 1982, Diagnosis of Hunter syndrome carriers; radioactive sulfate incorporation into fibroblasts in the presence of fructose-1-phosphate, Hum. Genet. 60:167.PubMedCrossRefGoogle Scholar
  116. Tsuji, M., Nakanishi, Y., Habachi, H., et al., 1980, The common identity of UDP-N-acetylgalac-tosamine-4-sulfatase, nitrocatechol sulfatase (arylsulfatase) and chondroitin-4-sulfatase, Biochim. Biophys. Acta 612:373.PubMedGoogle Scholar
  117. Van der Horst, G. T. J., Kleijer, W. J., Hoogeveen, A. T., et al., 1983, Morquio type B syndrome: A primary defect in β-galactosidase, Am. J. Med. Genet. 16:261.PubMedCrossRefGoogle Scholar
  118. Van Dyke, D. L., Fluharty, A. L., Schafer, I. A., et al., 1981, Prenatal diagnosis of Maroteaux-Lamy syndrome, Am. J. Med. Genet. 8:235.PubMedCrossRefGoogle Scholar
  119. Von Figura, K., and Kresse, H., 1972, The Sanfilippo B corrective factor: A N-acetyl-α-D-glucosaminidase, Biochem. Biophys. Res. Commun. 48:262.CrossRefGoogle Scholar
  120. Von Figura, K., Logering, M., Mersmann, G., et al., 1973, Sanfilippo B disease: Serum assay for detection of homozygous and heterozygous individuals in three families, J. Pediatr. 83:607.CrossRefGoogle Scholar
  121. Van Gemund, J. J., Giesberts, M. A. H., Eerdman, R. F., et al., 1983, Morquio-B syndrome, spondyloepiphyseal, Hum. Genet. 64:50.PubMedCrossRefGoogle Scholar
  122. Wappner, R. S., and Brandt, I. K., 1976, Hurler syndrome: α-L-Iduronidase activity in leukocytes as a method for heterozygote detection, Pediatr. Res. 10:629.PubMedCrossRefGoogle Scholar
  123. Whiteman, P., and Yong, E., 1977, The laboratory diagnosis of Sanfilippo disease, Clin. Chim. Acta 76:139.PubMedCrossRefGoogle Scholar
  124. Winters, P. R., Harrod, M. J., Molenich-Hectred, S. A., et al., 1976, α-Iduronidase deficiency and possible Hurler-Scheie genetic compound, Neurology 26:1003.PubMedGoogle Scholar
  125. Yatziv, S., Statter, M., Abeliuk, P., et al., 1975, A therapeutic trial of fresh plasma infusions over a period of 22 months in two siblings with Hunter’s syndrome, Isr. J. Med. Sci. 11:802.PubMedGoogle Scholar
  126. Yatziv, S., Erickson, R. P., and Epstein, C. J., 1977, Mild and severe Hunter syndrome (MPS II) within the same sibships, Clin. Genet. 11:319.PubMedCrossRefGoogle Scholar
  127. Yutaka, T., Fluharty, A. L., Stevens, R. L., et al., 1978, Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes, Am. J. Hum. Genet. 30:575.PubMedGoogle Scholar
  128. Zlotogora, J., and Bach, G., 1984a, Heterozygote detection in Hunter syndrome, Am. J. Med. Genet. 17:661.CrossRefGoogle Scholar
  129. Zlotogora, J., and Bach, G., 1984b, Hunter syndrome: Activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes; prospects for prenatal diagnosis, N. Engl. J. Med. 311:331.Google Scholar

Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • Gideon Bach
    • 1
  1. 1.Department of Human GeneticsHadassah-Hebrew University Medical CenterJerusalemIsrael

Personalised recommendations