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Zusammenfassung

Heteroglykane sind langkettige Makromoleküle aus Neutralzuckern, Uronsäuren und Aminozuckern. Uronsäure-haltige Heteroglykane heißen Glykosaminoglykane (saure Mukopolysaccharide). Ihre Verbindungen mit Proteinen werden als Proteoglykane bezeichnet. Glykoproteine sind Verbindungen von Neutralzuckern, Aminozuckern mit Eiweißkörpern (Abb. 1).

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Literatur

  • Arbisser AI, Donelly KA, Scott CI, Différante N, Singh J, Stevenson RE, Ayelesworth AS, Howell RR (1977) Morquio-like syndrome with beta-galactosidase deficiency and normal hexosamine sulfatase activity. Am J Med Genet 1:195.

    Article  CAS  PubMed  Google Scholar 

  • Aula P, Raivio K, Autio S, Thoden CE, Rapóla J, Koskela S-L, Yamashina I (1978) Four patients with a new lysosomal storage disorder (Salla disease). Monogr Hum Genet 10:16.

    CAS  PubMed  Google Scholar 

  • Autio S (1972) Aspartylglycosaminuria. J Ment Defic-Res Monogr Series No I

    Google Scholar 

  • Bach G, Zeigler M, Schaap T, Kohn G (1979) Mucolipidosis type IV: Ganglioside sialidase deficiency. Biochem Biophys Res Commun 90:1341.

    Article  CAS  PubMed  Google Scholar 

  • Basner R, Figura K. v, Grössi J, Klein U, Kresse H, Milekusch W (1979) Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis. Pediat Res 13:1316.

    Article  CAS  PubMed  Google Scholar 

  • Beaudet AL, Différante NM, Ferry GD, Nichols BL, Mullins CE (1977) Variation in the phenotypic expression of β-glucuronidase deficiency. J Pediat 86:388.

    Article  Google Scholar 

  • Berman ER, Livni N, Shapira E, Merin S, Levij IS (1974) Congenital corneal clouding with abnormal systemic storage bodies. A new variant of mucolipidoses. J Pediat 84:519

    Article  CAS  PubMed  Google Scholar 

  • Blaw ME, Langer LE (1969) Spinal cord compression in Morquio-Brailsford disease. J Pediat 74:593.

    Article  CAS  PubMed  Google Scholar 

  • Brill PW, Beratis NG, Kousseff BG, Hirschhorn K (1975) Roentgenographic findings in fucosidosis type 2. Am J Roentgenol 124:75.

    Article  CAS  Google Scholar 

  • Cantz M, Gehler J (1976) The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism. Hum Genet 32:233.

    Article  CAS  PubMed  Google Scholar 

  • Cantz M, Gehler J, Spranger J (1977) Mucolipidosis I: Increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts. Biochem Biophys Res Commun 74:132.

    Article  Google Scholar 

  • Cawson RA (1962) The oral changes in gargoylism. Proc Soc Med 55:1066.

    CAS  Google Scholar 

  • Danes BS, Degnan M (1974) Different clinical and biochemical phenotypes associated with β-glucuronidase deficiency. Birth Defects 10, no 12:251.

    Google Scholar 

  • Felding I, Hultberg B (1978) An atypical form of Sand-hoff’s disease. Case report and biochemical studies. Neuropaediatrie 9:74.

    Article  CAS  Google Scholar 

  • Fricker H, O’Brien JS, Vasella F, Gugler E, Mühlethaler JP, Spycher M, Wiesmann U, Herschkowitz N (1976) Generalized gangliosidosis: Acid β-galac-tosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia. J Neurol 213:213.

    Article  Google Scholar 

  • Gardner DG (1971) The oral manifestations of Hurler’s syndrome. Oral Surg 32:46.

    Article  CAS  PubMed  Google Scholar 

  • Gardner D (1975) The dental manifestations of the Morquio syndrome (mucopolysaccharidosis IV): Am J Dis Child 129:1445

    Article  CAS  PubMed  Google Scholar 

  • Gardner RJM, Hay HR (1974) Hurler’s syndrome with clear corneae. Lancet II:845

    Article  Google Scholar 

  • Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H (1974) Mucopolysaccharidosis VII: β-glucuronidase deficiency. Humangenetik 23:149.

    CAS  PubMed  Google Scholar 

  • Gitzelmann R, Wiesmann UN, Spycher MA, Hersch-kowitz N, Giedion A (1978) Unusually mild course of β-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII). Helv Paediat Acta 33:413.

    CAS  PubMed  Google Scholar 

  • Grossman H (1973) The Mucopolysaccharidoses and mucolipidoses. Prog Pediat Radiol 4:495.

    Google Scholar 

  • Grossman H, Danes S (1969) Neurovisceral storage disease. Am J Roentgenol 103:149.

    Article  Google Scholar 

  • Guibaud P, Maire I, Goddon R, Teyssier G, Zabot MT, Mandón G (1979) Mucopolysaccharidose type VII par déficit en β-glucuronidase. Etude d’une famille. J Génét Hum 27:29.

    CAS  PubMed  Google Scholar 

  • Hasilik A, Waheed A, von Figura K (1981) Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts. Biophys Res Commun 98:761.

    Article  CAS  Google Scholar 

  • Horrigan WD, Baker DH (1961) Gargoylism: a review of the roentgen skull changes with a description of a new finding. Am J Roentgenol 86:472.

    Google Scholar 

  • Kampf JJP, Pelt JF v, Liem KO, Giesberts MAH, Niepoth LTM, Staalman R (1976) Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships. Clin Genet 10:219.

    Google Scholar 

  • Karpati G, Carpenter S, Eisan A, Solfe LS, Feindel W (1974) Multiple nerve entrapments: An unusual phenotypic variant of the Hunter syndrome (mucopolysaccharidosis II) in a family. Arch Neurol 55:418.

    Article  Google Scholar 

  • Kelly TE (1974) The mucopolysaccharidoses and mucolipidoses. Clin Orthop No 114, 116

    Google Scholar 

  • Kelly TE, Thomas GH, Taylor HA, McKusick VA, Sly WS, Glaser JH, Robinow M, Luzzatti L, Espiritu C, Feingold M, Bull MJ, Ashenhurt EM, Ives EJ (1975) Mucopidosis III (Pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. Johns Hopkins Med J 157:156.

    Google Scholar 

  • Kousseff BG, Beratis NG, Strauss L, Brill PW, Rosenfield RE, Kaplan B, Hirschhorn K (1976) Fucosidosis type 2. Pediatrics 57:205.

    CAS  PubMed  Google Scholar 

  • Kuriyama M, Okada S, Tanaka Y, Umezaki H (1980) Adult mucolipidosis with β-galactosidase and neuraminidase deficiencies. J Neurol Sci 46:245.

    Article  CAS  PubMed  Google Scholar 

  • Langer LO, Carey LG (1966) The roentgenographic features of the KS-mucopolysaccharidosis of Morquio (Morquio-Brailsford disease). Am J Roentgenol 92:1.

    Article  Google Scholar 

  • Lee FA, Donnell GN, Gwinn JL (1977) Radiographic features of fucosidosis. Pediat Radiol 5:214.

    Article  Google Scholar 

  • Lemaitre L, Remy J, Farriaux JP, Dhondt JL, Walbaum R (1978) Radiographic signs of mucolipidosis II or I-cell-disease. Pediat Radiol 7:97.

    Article  CAS  PubMed  Google Scholar 

  • Leroy JG, Spranger JW, Feingold M, Opitz JM, Crokker AC (1971) I-cell disease. A clinical picture. J Pediat 79:310.

    Article  Google Scholar 

  • Lipson GJ (1977) Dysplasia of the odontoid process in Morquio’s syndrome causing quadriparesis. J Bone Joint Surg [Am] 59:340.

    CAS  Google Scholar 

  • Lowden LA, O’Brien JS (1979) Sialidosis: A review of human neuraminidase deficiency. Am J Hum Genet 31:1.

    CAS  PubMed Central  PubMed  Google Scholar 

  • Magee KR (1950) Leptomeningeal changes associated with lipo-chondrodystrophy (gargoylism). Arch Neurol Psychiat 63:282.

    Article  CAS  PubMed  Google Scholar 

  • Maroteaux P (1973) Un nouveau type de mucopolysaccharidose avec athétose et élimination urinaire de kératan sulfate. Presse Méd 14:915.

    Google Scholar 

  • Maroteaux P (1974) Maladies osseuses de l’enfant. Flammarion, Paris

    Google Scholar 

  • Maroteaux P, Lamy M (1966) La Pseudo-Polydystrophic de Hurler. Presse Méd 74:2889.

    CAS  PubMed  Google Scholar 

  • Maroteaux P, Lamy M, Foucher M (1963) La maladie de Morquio. Etude clinique, radiologique et biologique. Presse Méd 71:2091.

    CAS  PubMed  Google Scholar 

  • Maroteaux P, Humbel R, Strecker G, Michalski JC, Maude R (1978) Un nouveau type de sialidose avec atteinte rénale: La nephrosialidose. Arch Fr Pediat 35:819.

    CAS  PubMed  Google Scholar 

  • Matalón R, Deanching M (1977) The enzymic basis for the phenotypic variation of Hurler and Scheie syndromes. Pediat Res 11:887.

    Google Scholar 

  • McKusick VA (1972) Heritable disorders of connective tissue, 4th ed. Mosby, St. Louis

    Google Scholar 

  • McKusick VA (1978) The mucopolysaccharide storage diseases. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of interited disease 4th ed. McGraw Hill, New York, p 1282

    Google Scholar 

  • McKusick VA, Neufeld E, Kelly T (1978) The mucopolysaccharide storage diseases. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw Hill, New York

    Google Scholar 

  • Melhem R, Dorst JP, Scott CI, McKusick VA (1973) Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy). Radiology 106:153.

    CAS  PubMed  Google Scholar 

  • Neufeld DF, Liebaers J, Epstein CJ, Yatziv S, Milunsky A, Migeon BR (1977) The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet 29:455

    CAS  PubMed Central  PubMed  Google Scholar 

  • Neufeld EF (1974) The biochemical basis for mucopolysaccharidoses and mucolipidoses. In: Steinberg AG, Beam AG (eds) Progress in medical genetics, vol 10, p 81 Grune & Stratton, New York

    Google Scholar 

  • Neuhauser EBD, Griscom NT, Gilles FA, Crocker AC (1968) Arachnoid cysts in the Hurler-Hunter syndrome. Am J Roentgenol 11:435.

    Google Scholar 

  • O’Brien JS (1975) Molecular genetics of GM1β-galactosidase. Clin Genet 8:303.

    Article  PubMed  Google Scholar 

  • O’Brien JS (1978) GM1gangliosidosis. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw Hill, New York, p 845

    Google Scholar 

  • O’Brien JS, Ho MW, Veath ML, Wilson JF, Myers G, Opitz JM, Zu Rhein GM, Spranger JW, Hartmann HA, Haneberg B, Grosse FR (1972) Juvenile GM1gangliosidosis: clinical, pathological, chemical and enzymatic studies. Clin Genet 3:411.

    Article  PubMed  Google Scholar 

  • Pfeiffer RA, Kresse H, Bäumer N, Sattinger E (1977) Beta-glucuronidase deficiency in a girl with unusual clinical features. Eur J Pediatr 126:155.

    Article  CAS  PubMed  Google Scholar 

  • Pilz H, Müller D, Sandhoff K, Ter Meulen V (1968) Tay-Sachssche Krankheit mit Hexosaminidase Defekt. Dtsch Med Wochenschr 93:1833.

    Article  CAS  PubMed  Google Scholar 

  • Rampini SU (1976) Klinik der Mukopolysaccharidosen. Beiheft 74 „Klinische Pädiatrie“. Enke, Stuttgart

    Google Scholar 

  • Rampini S, Isler W, Baerlocher K, Bischoff A, Ulrich J, Plüss HJ (1970) Die Kombination von metachromatischer Leukodyxtrophie und Mucopolysaccharidose als eigenständiges Krankheitsbild (Mukosulfatidose). Helv Paediat Acta 25:436.

    CAS  PubMed  Google Scholar 

  • Rapin J, Goldfischer S, Katzmann R, Engel J, O’Brien JS (1978) The cherry-red macular spot-myoclonus Syndrome. Ann Neurol 3:234.

    Article  CAS  PubMed  Google Scholar 

  • Renlund M, Chester MA, Lundblad A, Aula P, Raivio O, Autio S, Koskela S-L (1979) Increased urinary excretion of free N-acetyl-neuraminic acid in thirteen patients with Salla disease. Europ J Biochem 101:245.

    Article  CAS  PubMed  Google Scholar 

  • Russell DB (1949) Observations of the pathology of hydrocephalus. Medical Research Council Spec. Serv Monograph No 265. HM Stationary Office, London

    Google Scholar 

  • Schäfer IA, Powell DW, Sullivan JC (1971) Lysosomal bone disease. Pediat Res 5:391.

    Article  Google Scholar 

  • Sly WS, Quinton BH, McAlister WH, Rimoin DL (1973) β-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis. J Pediatr 82:249.

    Article  CAS  PubMed  Google Scholar 

  • Spence MW, Ripley BA, Embil JA, Tibbies JAR (1970) A new variant of Sandhoffs disease. Pediatr Res 8:628.

    Article  Google Scholar 

  • Spranger J (1972) The systemic mucopolysaccharidoses. Ergeb Inn Med Kinderheilkd NF 32:165.

    Article  CAS  Google Scholar 

  • Spranger J (1977) β-Galactosidase and the Morquio syndrome. Am J Med Genet 1:207.

    Article  CAS  PubMed  Google Scholar 

  • Spranger J, Koch F, McKusick VA, Natzschka J, Wiedemann HR, Zellweger H (1970) Mucopolysaccharidosis VI (Maroteaux Lamy disease) Helv Paediat Acta 25:337

    CAS  PubMed  Google Scholar 

  • Spranger J, Langer LO, Wiedemann HR (1974) Bone dysplasias. Fischer, Stuttgart

    Google Scholar 

  • Spranger J, Gehler J, Cantz M (1976) The radiographic features of mannosidosis. Radiology 119:401.

    CAS  PubMed  Google Scholar 

  • Spranger J, Gehler J, Cantz M (1977) Mucolipidosis I — a sialidosis. Am J Med Genet 1:21.

    Article  Google Scholar 

  • Spranger J, Cantz M, Gehler J, Liebaers J, Theiss W (1978) Mucopolysacchridosis II (Hunter disease) with corneal opacities. Eur J Pediatr 129:11.

    Article  CAS  PubMed  Google Scholar 

  • Stevenson RE, Taylor HA, Parks SE (1978) ß-galacto-sidase deficiency: prolonged survival in three patients following early central nervous system deterioration. Clin Genet 13:305.

    Article  CAS  PubMed  Google Scholar 

  • Tellez-Nagel U, Rapin J, Iwamoto J, Hohnson A, Norton W, Nitowsky H (1976) Mucolipidosis IV. Arch Neurol 33:828.

    Article  CAS  PubMed  Google Scholar 

  • Troost J, Staal GEJ, Willense J, Heijden MCM van der (1977) Fucosidosis. Neuropädiatrie 8:155.

    Article  CAS  PubMed  Google Scholar 

  • Vidailhet M, Neimann N, Grigon G, Hartemann P, Philippart M, Paysan P, Floquet J (1973) Maladie de Sandhoff (gangliosidose à GM2 de type 2). Arch Fr Pédiatr 30:45.

    CAS  PubMed  Google Scholar 

  • Voelz C, Tolksdorf M, Freitag F, Spranger J (1971) Fucosidose. Monatsschr Kinderheilkd 119:352.

    CAS  PubMed  Google Scholar 

  • Worth HM (1966) Hurler’s syndrome. A study of radiologic appearances in the jaws. Oral Surg 22:21.

    Article  CAS  PubMed  Google Scholar 

  • Yatziv S, Erickson RP, Epstein CJ (1977) Mild and severe Hunter syndrome (mucopolysaccharidosis II) within the same sibship. Clin Genet 11:319.

    Article  CAS  PubMed  Google Scholar 

  • Young JD, Harper PS (1979) Long-term complications in Hunter’s syndrome. Clin Genet 16:125.

    Article  CAS  PubMed  Google Scholar 

  • Yunis JJ, Lewandowski RC, Sanfilippo S, Tsai M, Foni I, Brühl HB (1976) Clinical manifestations of mannosidosis. A longitudinal study. Am J Med 61:841.

    Article  CAS  PubMed  Google Scholar 

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Spranger, J. (1983). Osteopathien durch angeborene Störungen komplexer Kohlenhydrate (Heteroglykanosen). In: Diethelm, L., Heuck, F. (eds) Röntgendiagnostik der Skeleterkrankungen / Diseases of the Skeletal System (Roentgen Diagnosis). Handbuch der Medizinischen Radiologie / Encyclopedia of Medical Radiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-39445-8_1

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