Abstract
This chapter deals with the inborn errors of catabolism (degradation) of mucopolysaccharides (or the new term glycosaminoglycans). The mucopolysaccharidoses are a group of heritable disorders of man that are characterized by accumulation of glycosaminoglycans in the lysosomes of all cells of the body (except red blood cells) and increased excretion in the urine.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Neufeld, E.R and Muenzer, J. (1995) The mucopolysaccharidoses, in The Metabolic and Molecular Bases of Inherited Disease (eds C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle). McGraw-Hill, New York, pp. 2465–2494.
Meikle, P.J., Hopwood, J.J., Clague, A.E., Carey, W.F. (1999) Prevalence of lysosomal storage disorders. JAMA 281, 249–254.
van de Kamp, J.J., Niermeijer, M.E, von Figura, K., Giesberts, M.A., (1981) Genetic heterogeneity and clinical variable in the Sanfilippo syndrome (types A, B, and C). Clin. Genet. 20, pp. 152–160.
Ullrich, K. and Kresse, H. (1996) Mucopolysaccharidoses, in Physican’s Guide to the laboratory diagnosis of metabolic diseases (eds N. Blau, M. Duran, M.E. Blaskovics). Chapman and Hall Medical, New York, pp. 303–317.
Whitley, C.B. (1993) The mucopolysaccharidoses, in McKusick’s Heritable Disorders of Connective Tissue (P. Beighton), 5th edition, St. Louis, CV Mosby, pp. 367–499.
Natowicz, M. R.; Short, M. R; Wang, Y.; Dickersin, G. R.; Gebhardt, M. C.; Rosenthal, D. I.; Sims, K. B.; Rosenberg, A. E. (1996) Clinical and biochemical manifestations of hyaluronidase deficiency. New Eng. J. Med. 335, 1029–1033.
Steiner, RD, Whyte, MP, Chang, E, Hanks, J, Mattes, C, Senephansiri, H, and Gibson, KM: Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis. J. Inker. Metab. Dis. 23, 88–90, 2000.
Kakkis, E. D., Muenzer, J, Tiller, G.E., Lewis, W, Belmont, J., Passage, M., Izykowski, B, Phillips, J., Doroshow, R., Walot, I., Hoft, R., Yu, K.T., Okazaki, S., Lewis, D., Lachman, R., Thompson, J.N., Neufeld, E.F.: Enzyme-Replacement Therapy in Mucopolysaccharidosis I. New Eng. J. Med. 344, 182–188, 2001.
Peters, C, Shapiro, E.G., Anderson, J., Henslee-Downey, P.J., Klemperer, M.R., Cowan, M.J., Saunders, E.E, del Alarcon, P.A., Twist, C, Nachman, J.B., Hale, G.A., Harris, R.E., Rozans, M.K., Kurtzberg, J., Grayson, G.H., Williams, T.E., Lenarsky, C, Wagner, J.E., Krivit, W. (1998) Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. Blood 91, pp. 2601–2608.
Pan, D., Shankar, R., Stroncek, D.F., Whitley, C.B. (1999) Combined ultrafiltrationtransduction in a hollow-fiber bioreactor facilitates retrovirus-mediated gene transfer into peripheral blood lymphocytes from patients with mucopolysaccharidosis type II. Human Gene Therapy 10, 2799–2810.
Krivit, W, Pierpont, M.E., Ayaz, K., Tsai, M., Ramsay, N. K., Kersey, J. H., Weisdorf, S., Sibley, R., Snover, D., McGovern, M. M. (1984) Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): biochemical and clinical status 24 months after transplantation. N. Eng. J. Med. 311, 1606–1611.
Koc, O.N., Peters, C, Aubourg, P., Raghavan, S., Dyhouse, S., DeGasperi, R., Kolodny, E. H., Yoseph, B. Y, Gerson, S. L., Lazarus, H. M., Caplan, A. I., Watkins, P. A., Krivit, W. (1999) Bone marrow-derived mesenchymal stem cells remain hostderived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. Exper. Hemat. 27, 1675–1681.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2003 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Thompson, J.N. (2003). The Mucopolysaccharidoses. In: Blau, N., Duran, M., Blaskovics, M.E., Gibson, K.M. (eds) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55878-8_24
Download citation
DOI: https://doi.org/10.1007/978-3-642-55878-8_24
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-62709-5
Online ISBN: 978-3-642-55878-8
eBook Packages: Springer Book Archive