Zusammenfassung
Mukopolysaccharidosen sind Krankheiten mit abnormem Stoffwechsel der Glukosaminoglukane, was sich in gestörtem Aufbau der Stützgewebe, in extrazellulärer Ablagerung von Glukosaminoglukanen, in einer erhöhten Ausscheidung dieser Substanzen im Urin und oft in einer abnormen Vakuolisierung der zirkulierenden Lymphozyten manifestiert. Bei einigen dieser Krankheitstypen sind Enzymdefekte nachgewiesen worden (z.B. β-Galaktosidase-Störung).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Similar content being viewed by others
Literatur
Abul-Haj, S. K., Martz, D. G., Douglas, W. F., Geppert, L. J.: Farber’s disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. J. Pediat. 61, 221 (1962).
Balazs, E. A., Jeanloz, R. W.: A guide to the nomenclature. In The Amino Sugars, vol. II A, S. 13, New York: Academic Press 1965.
Barrett, A. J.: The biochemistry and function of mucosubstances. Histochem. J. 3, 213 (1971).
Bartman, J., Blanc, W. A.: Fibroblast cultures in Hurler’s and Hunter’s syndromes. Arch. Path. 89, 279 (1970).
Belcher, R.W.: Ultrastructure and cytochemistry of lymphocytes in the genetic mucopolysaccharidoses. Arch. Path. 93, 1 (1972).
Conrad, G. W.: Collagen and mucopolysaccharide biosynthesis in mass cultures and clones of chick corneal fibroblasts in vitro. Develop. Biol. 21, 611 (1970).
Danes, B. S.: Cell culture and rare connective tissue disorders. J. Pediat. 77, 307 (1970).
Danes, B. S., Beam, A. G.: Hurler’s syndrome: A genetic study in cell culture. J. exp. Med. 123, 1 (1966).
Dekaban, A. S., Patton, V. M.: Hurler’s and Sanfilippo’s variants of mucopolysaccharidosis. Arch. Path. 91, 434 (1971).
D’Elia, R., Baroni, A.: Ultrastructure of human skin fibroblasts in gargoylism. Helv. paediat. Acta 25, 492 (1970).
Dorfman, A.: Heritable diseases of connective tissue: The Hurler syndrome. In The Metabolic Basis of Inherited Disease (Hrsg. Stanbury et al.), S. 1218 New York: McGraw-Hill 1972.
Dorfman, A., Matalon, R.: The Hurler and Hunter syndromes. Amer. J. Med. 47, 691 (1969).
Engfeldt, B., Hjertquist, S.-O.: The effect of various fixatives on the preservation of acid glycosaminoglycans in tissues. Acta path. microbiol. scand. 71, 219 (1967).
Freeman, J. M., McKhann: Degenerative disease of the centralnervous system. In Advances of Pediatrics. 16, 125 und 142ff. Chicago: Year Book 1969.
Hambrick, G. W., Jr., Scheie, H. G.: Studies of the skin in Hurler’s syndrome Arch. Derm. 85, 63 (1962).
Haust, M. D., Gordon, B. A., Bryans, A. M., Wollin, D. G., Binnington, V.: Heparitin sulfate mucopolysaccharidosis (Sanfilippo disease): A case study with ultrastructural, biochemical, and radiological findings. Pediat. Res. 5, 137 (1971).
Ho, M. W., O’Brien, J. S.: Hurler’s syndrome: Deficiency of a specific beta galactosidase isoenzyme. Science 165, 611 (1969).
Horton, W. A., Schimke, R. N.: A new mucopolysaccharidosis. J. Pediat. 77, 252 (1970).
Humbel, R., Marchal, C., Fall, M.: Differential diagnosis of mucopolysaccharidosis by means of thin-layer chromatography of urinary acidic glycosaminoglycans. Helv. paediat. Acta 24, 648 (1969).
Kjellman, B., Gamstorp, I., Brun, A., Öckerman, P.-A., Palmgren, B.: Mannosidosis: A clinical and histopathologic study. J. Pediat. 75, 366 (1969).
Linker, A., Evans, L. R., Langer, L. O.: Mor-quio’s disease and mucopolysaccharide excretion. J. Paediat. 77, 1039 (1970).
Loeb, H., Jonniaux, G., Resibois, A., Cremer, N., Dodion, J., Tondeur, M., Gregoire, P. E., Richard, J., Cieters, P.: Biochemical and ultrastructural studies in Hurler’s syndrome. J. Pediat. 73, 860 (1968).
Loeb, H., Tondeur, M., Toppet, M., Cremer, N.: Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis. Acta paediat. scand. 58, 220 (1969).
Lundquist, A., Öckerman, P.-A.: Fine-needle aspiration biopsy of human liver for enzymatic diagnosis of glycogen storage disease and gargoylism. Acta paediat. scand. 59, 293 (1970).
McKusick, V. A.: The mucopolysaccharidoses. In Heritable Disorders of Connective Tissue, 4. Aufl. St. Louis, Mosby, S. 521, 1972.
Matalon, R., Dorfman, A.: Acid mucopolysaccharides in cultured human fibroblasts. Lancet 2, 838 (1969).
Moser, H. W., Prensky, A. L., Wolfe, H. J., Rosman, N. P.: Farber’s lipogranulomatosis. Report of a case and demonstration of an excess on free ceramide and ganglioside. Amer. J. Med. 47, 869 (1969).
Muir, H.: The structure and metabolism of mucopolysaccharides (glycosaminoglycans) and the problem of the mucopolysaccharidoses. Amer. J. Med. 47, 673 (1969).
Muir, H., Mittwoch, W., Bitter, T.: The diagnostic value of isolated urinary mucopolysaccharides and of lymphocyte inclusions in gargoylism. Arch. Dis. Childh. 38, 358 (1963).
Nadler, H. L., Gerbie, A. B.: Role of amniocentesis in the intrauterine detection of genetic disorders. New Engl. J. Med. 282, 596 (1970).
Neufeld, E. F., Frantantoni, J. C.: Inborn errors of mucopolysaccharide metabolism. Faulty degradative mechanisms are implicated in this group of human disease. Science 169, 141 (1970).
Öckerman, P.-A.: Enzymdiagnostik av medfödda metaboliska rubbningar. Lakartidn. 65, 1335 (1969).
Öckerman, P.-A.: Mannosidosis: Isolation of oligosaccharide storage material from brain. J. Pediat. 75, 360 (1969).
Rampini, S., Isler, W., Baerlocher, K., Bischoff, A., Ulrich, J., Pliiss, H. J.: Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbständiges Krankheitsbild (Mukosulfatidose). Helv. paediat. Acta 25, 436 (1970).
Scott, C. R., Lagunoff, D., Trump, B. F.: Familial neurovisceral lipidosis. J. Pediat. 71, 357 (1967).
Sorvari, T. E., Näntö, V.: Investigations of dye binding in the sequential staining of muco-saccharides by Alcian Yellow — Alcian Blue. I. Histochemical experiments on different animal and human mucosaccharides. Histo-chem J. 3, 261 (1971).
Sorvari, T. E., Näntö, V.: Investigations of dye binding in the sequential staining of mucosaccharides by Alcian Yellow — Alcian Blue. II. Spot tests and experiments on dye-muco-polysaccharide (glycosaminoglycan) precipitates. Histochem. J. 3, 269 (1971).
Spranger, J., Wiedermann, H.-R., Tolksdorf, M., Graucob, E., Caesar, R.: Lipomucopo-lysaccharidose. Eine neue Speicherkrankheit. Z. Kinderheilk. 103, 285 (1968).
Wiesmann, U., Neufeld, E. F.: Scheie and Hurler syndromes: Apparent identity of the biochemical defect. Science 169, 72 (1970).
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1974 Biörn Ivemark und Almqvist & Wiksell Förlag AB, Stockholm
About this chapter
Cite this chapter
Ivemark, B. (1974). Mukopolysaccharidosen. In: Kinderpathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-65723-8_7
Download citation
DOI: https://doi.org/10.1007/978-3-642-65723-8_7
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-65724-5
Online ISBN: 978-3-642-65723-8
eBook Packages: Springer Book Archive