Summary
An antiserum was raised in guinea pigs against purified normal human N-acetylgalactosamine-6-sulfate sulfatase, the enzyme affected in Morquio's disease type A. The antiserum precipitated most of N-acetylgalactosamine-6-sulfate sulfatase from a concentrate of normal human urine. The antigen-antibody complex was enzymatically active. Urine concentrates from five patients with Morquio's disease type A did not contain material competing with the normal enzyme for binding to soluble or Sepharose-bound antibodies. No precipitin arc was obtained on immunodiffusion of antiserum and urine from the single patient investigated by this method. From the sensitivity of the indirect immunoassay it was concluded that the urine of the five patients contained less than 5% of the normal amount of cross-reacting material.
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Arbisser, A. J., Donelly, K. A., Scott C. J., DiFerrante, N., Singh, J., Stevenson, R. E., Aylesworth, A. S., Howell, R. R.: Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IV B. Am. J. Med. Genet. 1, 195–205 (1977)
Barsy, T. de, Jacquemin, P., Devos, P., Hers, H. G.: Rodent and human acid α-glucosidase. Purification, properties and inhibition by antibodies. Investigation in type II glycogenosis. Eur. J. Biochem. 31, 156–165 (1972)
Burditt, L. J., Chotai, K. A., Winchester, B. G.: Evidence that the mutant enzyme in fibroblasts of a patient with mannosidosis does not crossreact with antiserum raised against normal acid α-d-mannosidase. FEBS Lett. 91, 186–189 (1978)
Carroll, M., Robinson, D.: Immunological properties of N-acetyl-β-glucosaminidase of normal human liver and of GM2-gangliosidosis liver. Biochem. J. 131, 91–96 (1973)
DiFerrante, N., Ginsberg, L. C., Donelly P. V., DiFerrante, D. T., Caskey, D. T.: Dificiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatase are responsible for different mucopolysaccharidoses. Science 199, 79–81 (1978)
Figura, K. von, Kresse, H.: Sanfilippo disease type B: presence of material cross reacting with antibodies against α-N-acetylglucosaminidase. Eur. J. Biochem. 61, 581–588 (1976)
Glössl, J., Kresse, H.: A sensitive procedure for the diagnosis of N-acetylgalactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease. Clin. Chim. Acta 88, 111–119 (1978)
Glössl, J., Truppe, W., Kresse, H.: Purification and properties of N-acetylgalactosamine-6-sulphate sulphatase from human placenta. Biochem. J. 181, 37–46 (1979a)
Glössl, J., Lembeck, K., Gamse, G., Kresse, H.: Morquio's disease type A: absence of material cross-reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase. In: Glycoconjugates. Proceedings of the Fifth International Symposium (R. Schauer, P. Boer, E. Buddecke, H. F. Kramer, J. F. G. Vliegenthart, H. Wiegandt, eds.), pp. 402–403. Stuttgart: G. Thieme Publishers 1979b
Groebe, H., Krins, M., Schmidberger, H., von Figura, K., Harzer, K., Kresse, H., Paschke, E., Sewell, A., Ullrich, K.: Morquio syndrome (mucopolysaccharidosis IV B) associated with β-galactosidase deficiency. Report of two cases. Am. J. Hum. Genet. (in press, 1980)
Horwitz, A. L., Dorfman, A.: The enzymatic defect in Morquio's disease: the specificity of N-actylhexosamine sulfatases. Biochem. Biophys. Res. Commun. 80, 819–825 (1978)
Matalon, R., Arbogast, B., Justice, P., Brandt, J. K., Dorfman, A.: Morquio's syndrome. Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. Biochem. Biophys. Res. Commun. 61, 759–765 (1974)
McKusick, V. A.: Heritable Disorders of Connective Tissue, 4th edn., pp. 521–586. St. Louis, Mo.: C. V. Mosby 1972
Minami, R., Ago, K., Kudoh, T., Tsugawa, S., Oyanagi, K., Kanao, T.: Identification of keratan sulfate in liver affected by Morquio syndrome. Clin. Chim. Acta 93, 207–214 (1979)
Neuwelt, E., Köhler, P. F., Austin, J.: Primary enzyme immunoassay. Studies of the mutant enzyme in metachromatic leukodystrophy (primary enzyme immunoassay of arylsulfatase A). Immunochemistry 10, 767–773 (1973)
O'Brien, J. S., Gugler, E., Giedion, A., Wiesmann, U., Herschkowitz, N., Meier, C., Leroy, J.: Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β-galactosidase deficiency. Clin. Genet. 9, 495–504 (1976)
Pedrini, V., Lenzi, L., Zambotti, V.: Isolation and identification of keratosulfate in urine of patients affected by Morquio-Ullrich disease. Proc. Soc. Exp. Biol. Med. 110, 847–849 (1962)
Rampini, S. U.: Klinik der Mucopolysaccharidosen. Stuttgart: F. Enke Verlag 1976
Rietra, P. J. G. M., Molenaar, J. L., Hamers, M. N., Tager, J. M., Brost, P.: Investigation of the α-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme. Eur. J. Biochem. 46, 89–98 (1974)
Singh, J., DiFerrante, N., Niebes, P., Tavella, D.: N-Acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease. J. Clin. Invest. 57, 1036–1040 (1976)
Srivastava, S. K., Beutler, E.: Studies on human β-d-N-acetylhexosaminidases. J. Biol. Chem. 249, 2054–2057 (1974)
Srivastava, S. K., Ansari, N. H., Hawkins, L. A., Wiktorowics, J. E.: Demonstration of cross-reacting material in Tay-Sachs disease. Biochem. J. 179, 657–664 (1979)
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Glössl, J., Lembeck, K., Gamse, G. et al. Morquio's disease type A: Absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase. Hum Genet 54, 87–91 (1980). https://doi.org/10.1007/BF00279054
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DOI: https://doi.org/10.1007/BF00279054