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. 1971 Feb;68(2):303–307. doi: 10.1073/pnas.68.2.303

Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion

Nicola Di Ferrante 1,2,3, Buford L Nichols 1,2,3, Patricia V Donnelly 1,2,3, Giovanni Neri 1,2,3, Ruzica Hrgovcic 1,2,3, Robert K Berglund 1,2,3
PMCID: PMC388923  PMID: 5277074

Abstract

The effects of the administration of normal human plasma to patients affected by mucopolysaccharidoses I and II (Hurler's and Hunter's syndromes) have been evaluated. The infusion was followed by a decreased urinary excretion of relatively large molecular weight glycosaminoglycans and by an increased excretion of their products of degradation. Among the latter, products of the degradation of dermatan sulfate and heparan sulfate could be demonstrated.

The results indicate that normal human plasma may contain those “factors” that are involved in the normal degradation of dermatan sulfate and heparan sulfate, that are missing in the diseased states.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aronson N. N., Jr, Davidson E. A. Lysosomal hyaluronidase from rat liver. II. Properties. J Biol Chem. 1967 Feb 10;242(3):441–444. [PubMed] [Google Scholar]
  2. BITTER T., MUIR H. M. A modified uronic acid carbazole reaction. Anal Biochem. 1962 Oct;4:330–334. doi: 10.1016/0003-2697(62)90095-7. [DOI] [PubMed] [Google Scholar]
  3. BOLLET A. J., BONNER W. M., Jr, NANCE J. L. THE PRESENCE OF HYALURONIDASE IN VARIOUS MAMMALIAN TISSUES. J Biol Chem. 1963 Nov;238:3522–3527. [PubMed] [Google Scholar]
  4. BRANTE G. Gargoylism; a mucopolysaccharidosis. Scand J Clin Lab Invest. 1952;4(1):43–46. doi: 10.3109/00365515209060631. [DOI] [PubMed] [Google Scholar]
  5. Brown D. H. TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE. Proc Natl Acad Sci U S A. 1957 Sep 15;43(9):783–790. doi: 10.1073/pnas.43.9.783. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Calatroni A., Donnelly P. V., Di Ferrante N. The glycosaminoglycans of human plasma. J Clin Invest. 1969 Feb;48(2):332–343. doi: 10.1172/JCI105989. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Cantz M., Chrambach A., Neufeld E. F. Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis. Biochem Biophys Res Commun. 1970 Jun 5;39(5):936–942. doi: 10.1016/0006-291x(70)90414-6. [DOI] [PubMed] [Google Scholar]
  8. Crocker A. C. Therapeutic trials in the inborn errors. An attempt to modify Hurler's syndrome. Pediatrics. 1968 Dec;42(6):887–888. [PubMed] [Google Scholar]
  9. DI FERRANTE N. Turbidimetric measurement of acid mucopolysaccharides and hyaluronidase activity. J Biol Chem. 1956 May;220(1):303–306. [PubMed] [Google Scholar]
  10. Danes B. S., Bearn A. G. Hurler's syndrome. A genetic study in cell culture. J Exp Med. 1966 Jan 1;123(1):1–16. doi: 10.1084/jem.123.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Danes B. S., Bearn A. G. Hurler's syndrome. Effect of retinol (vitamin A alcohol) on cellular mucopolysaccharides in cultured human skin fibroblasts. J Exp Med. 1966 Dec 1;124(6):1181–1198. doi: 10.1084/jem.124.6.1181. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Danes B. S., Bearn A. G. Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture. Science. 1965 Aug 27;149(3687):987–989. doi: 10.1126/science.149.3687.987. [DOI] [PubMed] [Google Scholar]
  13. Danes B. S., Bearn A. G. The effect of retinol (vitamin-A alcohol) on urinary excretion of mucopolysaccharides in the Hurler syndrome. Lancet. 1967 May 13;1(7498):1029–1030. doi: 10.1016/s0140-6736(67)91542-5. [DOI] [PubMed] [Google Scholar]
  14. DeJong B. P., Robertson W. V., Schafer I. A. Failure to induce scurvy by ascorbic acid depletion in a patient with Hurler's syndrome. Pediatrics. 1968 Dec;42(6):889–903. [PubMed] [Google Scholar]
  15. Di Ferrante N. M. The measurement of urinary mucopolysaccharides. Anal Biochem. 1967 Oct;21(1):98–106. doi: 10.1016/0003-2697(67)90087-5. [DOI] [PubMed] [Google Scholar]
  16. Dorfman A., Lorincz A. E. OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME. Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443–446. doi: 10.1073/pnas.43.6.443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Fratantoni J. C., Hall C. W., Neufeld E. F. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968 Nov 1;162(3853):570–572. doi: 10.1126/science.162.3853.570. [DOI] [PubMed] [Google Scholar]
  18. Fratantoni J. C., Hall C. W., Neufeld E. F. The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc Natl Acad Sci U S A. 1969 Sep;64(1):360–366. doi: 10.1073/pnas.64.1.360. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Hors-Cayla M. C., Maroteaux P., de Grouchy J. Fibroblastes en culture au cours de mucopolysaccharidoses: influence du sérum sur la métachromasie. Ann Genet. 1968 Dec;11(4):265–266. [PubMed] [Google Scholar]
  20. LAGUNOFF D., WARREN G. Determination of 2-deoxy-2-sulfoaminohexose content of mucopolysaccharides. Arch Biochem Biophys. 1962 Dec;99:396–400. doi: 10.1016/0003-9861(62)90285-0. [DOI] [PubMed] [Google Scholar]
  21. 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 Pediatr. 1968 Dec;73(6):860–874. doi: 10.1016/s0022-3476(68)80239-2. [DOI] [PubMed] [Google Scholar]
  22. Madsen J. A., Linker A. Vitamin A and mucopolysaccharidosis: a clinical and biochemical evaluation. J Pediatr. 1969 Nov;75(5):843–852. doi: 10.1016/s0022-3476(69)80309-4. [DOI] [PubMed] [Google Scholar]
  23. Mapes C. A., Anderson R. L., Sweeley C. C., Desnick R. J., Krivit W. Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science. 1970 Sep 4;169(3949):987–989. doi: 10.1126/science.169.3949.987. [DOI] [PubMed] [Google Scholar]
  24. McKusick V. A., Kaplan D., Wise D., Hanley W. B., Suddarth S. B., Sevick M. E., Maumanee A. E. The genetic mucopolysaccharidoses. Medicine (Baltimore) 1965 Nov;44(6):445–483. doi: 10.1097/00005792-196511000-00001. [DOI] [PubMed] [Google Scholar]
  25. Murata K., Ishikawa T., Oshima Y. Enzymatic studies of urinary chondroitin sulfates in normal and systemic connective tissue disease states. Clin Chim Acta. 1970 Apr;28(1):213–222. doi: 10.1016/0009-8981(70)90182-8. [DOI] [PubMed] [Google Scholar]
  26. Neufeld E. F., Fratantoni J. C. Inborn errors of mucopolysaccharide metabolism. Science. 1970 Jul 10;169(3941):141–146. doi: 10.1126/science.169.3941.141. [DOI] [PubMed] [Google Scholar]
  27. Onisawa J., Lee T. Y. Increased urinary excretion of chondroitin sulfate A and C in Hunter's syndrome. Biochim Biophys Acta. 1970 Apr 14;208(1):144–147. doi: 10.1016/0304-4165(70)90058-9. [DOI] [PubMed] [Google Scholar]
  28. Patel V., Tappel A. L., O'Brien J. S. Hyaluronidase and sulfatase deficiency in Hurler's syndrome. Biochem Med. 1970 Jun;3(6):447–457. doi: 10.1016/0006-2944(70)90037-2. [DOI] [PubMed] [Google Scholar]
  29. SCHILLER S., SLOVER G. A., DORFMAN A. A method for the separation of acid mucopolysaccharides: its application to the isolation of heparin from the skin of rats. J Biol Chem. 1961 Apr;236:983–987. [PubMed] [Google Scholar]
  30. Scott J. E., Harbinson R. J. Periodate oxidation of acid polysaccharides inhibition by the electrostatic field of the substrate. Histochemie. 1968;14(3):215–220. doi: 10.1007/BF00306317. [DOI] [PubMed] [Google Scholar]
  31. Wallace B. J., Kaplan D., Adachi M., Schneck L., Volk B. W. Mucopolysaccharidosis type 3. Morphologic and biochemical studies of two siblings with Sanfilippo syndrome. Arch Pathol. 1966 Nov;82(5):462–473. [PubMed] [Google Scholar]
  32. Wiesmann U., Neufeld E. F. Scheie and Hurler syndromes: apparent identity of the biochemical defect. Science. 1970 Jul 3;169(3940):72–74. doi: 10.1126/science.169.3940.72. [DOI] [PubMed] [Google Scholar]

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