Abstract
In 1968, two patients were described in the literature who exhibited clinical features resembling Hurler disease, yet had a normal urinary excretion of acid mucopolysaccharides. Histological and ultrastructural studies of neuronal, visceral and mesenchymal tissues revealed the lysosomal storage of compounds thought to be acid mucopolysaccharides and glycolipids (BÉRARD et al., 1968; SPRANGER et al., 1968; FREITAG et al., 1971) Together with morphologically similar disorders, these patients were later classified as mucolipidosis I (SPRANGER and WIEDEMANN, 1970). More recent biochemical investigations showed an accumulation of sialic acid-containing compounds in cultured fibroblasts and in leukocytes of such patients (CANTZ et al., 1977; SPRANGER et al., 1977; KELLY and GRAETZ, 1977), and a massive urinary excretion of sialyl oligosaccharides, whose structures resembled the glycan portion of glycoproteins MICHALSKI et al., 1977). In fibroblasts, there was a profound deficiency of an “acid” (presumably lysosomal) neuraminidase towards substrates such as sialyllactose, fetuin, and methoxyphenyl neuraminic acid, whereas other lysosomal hydrolases were within the normal range (CANTZ et al., 1977; SPRANGER et al., 1977; KELLY and GRAETZ, 1977). From these studies it became evident that the metabolic defect in mucolipidosis I consists of an impaired catabolism of glycoproteinderived sialyl oligosaccharides due to the genetic deficiency of a neuraminidase, i.e., that the disease is a sialidosis.
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References
ARONSON N.N. and DE DUVE C. (1968): Digestive activity of lysosomes. II. The digestion of macromolecular carbohydrates by extracts of rat liver lysosomes. J. biol. Chem. 243, 4564–4573
BÉRARD M., TOGA M., BERNARD R., DUBOIS D., MARIANI R. and HASSOUN J. (1968): Pathological findings in one case of neuronal and mesenchymal storage disease. Its relationship to lipidoses and to mucopolysaccharidoses. Path. europ. 3, 172–183
CANTZ M., KRESSE H., BARTON R.W. and NEUFELD E.F. (1972): Corrective factors for inborn errors of mucopolysaccharide metabolism, in “Methods in Enzymology”, GINSBURG V., Ed., Vol. XXVIII, Part B, Academic Press (New York and London), pp. 884–897
CANTZ M., GEHLER J. and SPRANGER J. (1977): Mucolipidosis I: Increased sialic acid content and deficiency of an a -N-acetylneuraminidase in cultured fibroblasts. Biochem. Biophys. Res. Commun. 74, 732–738
DAWSON G., MATALON R. and DORFMAN A. (1972): Glycosphingolipids in cultured human skin fibroblasts. II. Characterization and metabolism in fibroblasts from patients with inborn errors of glycosphingolipid and mucopolysaccharide metabolism. J. biol. Chem. 247, 5951–5958
DURAND P., GATTI R., CAVALIERI S., BORRONE C., TONDEUR M., MICHALSKI J.C. and STRECKER G (1977): Sialidosis (mucolipidosis I). Hely. paediat. Acta 32, 391–400
FREITAG F., BLÜMCKE S. and SPRANGER J. (1971): Hepatic ultrastructure in mucolipidosis I (lipomucopolysaccharidosis). Virchows Arch. Path. B7, 189–204
HORVAT A. and TOUSTER O. (1968): On the lysosomal occurence and the properties of the neuraminidase of rat liver and of Ehrlich ascites tumor cells. J. biol. Chem 243, 4380–4390
KAPLAN A., ACHORD D.T. and SLY W.S. (1977): Phosphohexo- syl components of a lysosomal enzyme are recog- nized by pinocytosis receptors on human fibro- blasts. Proc. Nat. Acad. Sci. USA 74, 2026–2030
KELLY T.E. and GRAETZ G. (1977): Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. Amer. J. Med. Genet. 1, 31–46
LEROY J.G., HO M.W., MACBRINN M.C., ZIELKE K., JACOB J. and O’BRIEN J.S. (1972): I-cell disease: Biochemical studies. Pediat. Res. 6, 752–757
MAROTEAUX P., POISSONNIER M., TONDEUR M., STRECKER G. and LEMONNIER M. (1978): Sialidose par deficit en alpha (2–6) neuraminidase sans atteinte neurologique. Mucolipidose de type I ? Arch. Fran?. Péd. 35, 280–291
MICHALSKI J.C., STRECKER G., FOURNET B., CANTZ M. and SPRANGER J. (1977): Structures of sialyl-oligosaccharides excreted in the urine of a patient with mucolipidosis I. FEBS Lett. 79, 101–104
NEUFELD E.F. (1974): The biochemical basis for mucopolysaccharidoses and mucolipidoses, in “Progress in Medical Genetics”, STEINBERG A.G. and BEARN A.G., Eds., Vol. X, Grune and Stratton Inc. ( New York and London ), 81–101
O’BRIEN J.S. (1977): Neuraminidase deficiency in the cherry red spot-myoclonus syndrome. Biochem. Biophys. Res. Commun. 79, 1136–1141
SANDC G.N. and NEUFELD E.F. (1977): Recognition and receptormediated uptake of a lysosomal enzyme, a-Liduronidase, by cultured human fibroblasts. Cell 12, 619–627
SPRANGER J., WIEDEMANN H.R., TOLKSDORF M., GRAUCOB E. and CAESAR R. (1968): Lipomucopolysaccharidose. Eine neue Speicherkrankheit. Zschr. Kinderheilk. 103, 285–306
SPRANGER J. and WIEDEMANN H.R. (1970): The genetic mucolipidoses. Humangenetik 9, 113–139
SPRANGER J., GEHLER J. and CANTZ M. (1977): Mucolipidosis I-a sialidosis. Amer. J. Med. Genet. 1, 21–29
STRECKER G., MICHALSKI J.C., MONTREUIL J. and FARRIAUX J.P. (1976): Deficit in neuraminidase associated with mucolipidosis II (I-cell disease). Biomedicine 25, 238–239
STRECKER G., PEERS M.C., MICHALSKI J.C., HONDI-ASSAH T., FOURNET B., SPIK G., MONTREUIL J., FARRIAUX J.P., MAROTEAUX P. and DURAND P. (1977): Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis, mucolipidosis II and two new types of mucolipidosis. Eur. J. Biochem. 75, 391–403
STRECKER G. and MICHALSKI J.C. (1978): Biochemical basis of six different types of sialidosis. FEBS Lett. 85, 20–24
THOMAS G.H., TILLER G.E., REYNOLDS L.W., MILLER C.S. and BACE J.W. (1976): Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts. Biochem. Biophys. Res. Commun. 71, 188–195
THOMAS G.H., TIPTON R.E., CH’IEN T., REYNOLDS L.W. and MILLER C.S. (1978): Sialidase (a-N-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia. Clin. Genet. 13, 369–379
TONDEUR M., VAMOS-HURWITZ E., MOCKEL-POHL S., DEREUME J.P., CREMER N. and LOEB H. (1971): Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture. J. Pediat. 79, 366–378
TULSIANI D.R.P. and CARUBELLI R. (1970): Studies on the soluble and lysosomal neuraminidases of rat liver. J. biol. Chem. 245, 1821–1827
VLADUTIU G.D. and RATTAZZI M.C. (1975): Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II). Biochem. Biophys. Res. Commun. 67, 956–964
VLADUTIU G.D. and RATTAZZI M.C. (1978): I-cell disease. Desialylation of ß-hexosaminidase and its effect on uptake by fibroblasts. Biochim. Biophys. Acta 539, 31–36
WARREN L. (1959): The thiobarbituric acid assay of sialic acids. J. biol. Chem. 234, 1971–1975
WENGER D.A., SATTLER M., CLARK C. and WHARTON C. (1976): I-cell disease: Activities of lysosomal enzymes toward natural and synthetic substrates. Life Sci. 19, 413–420
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© 1980 Plenum Press, New York
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Cantz, M. (1980). Neuraminidase Studies in Sialidosis. In: Svennerholm, L., Mandel, P., Dreyfus, H., Urban, PF. (eds) Structure and Function of Gangliosides. Advances in Experimental Medicine and Biology, vol 125. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7844-0_38
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DOI: https://doi.org/10.1007/978-1-4684-7844-0_38
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