Mucopolysaccharidosis type I: genetic variants and enzyme replacement therapy experience in Saint-Petersburg
- Authors: Buchinskaya N.V.1, Kalashnikova O.V.1, Dubko M.F.1, Kostik M.M.1, Chasnyk V.G.1
-
Affiliations:
- Saint-Petersburg State Pediatric Medical University
- Issue: Vol 4, No 3 (2013)
- Pages: 41-46
- Section: Articles
- URL: https://journals.eco-vector.com/pediatr/article/view/1074
- DOI: https://doi.org/10.17816/PED4341-46
- ID: 1074
Cite item
Abstract
Full Text
![Restricted Access](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_lock.png)
About the authors
Natalya Valeryevna Buchinskaya
Saint-Petersburg State Pediatric Medical University
Email: ro-maska@mail.ru
medical laboratory assistant, Chair of Hospital Pediatrics
Olga Valeryevna Kalashnikova
Saint-Petersburg State Pediatric Medical University
Email: koira7@yandex.ru
MD, Ph.D., Нead of 3rd Pediatric Department, Associate Professor Department and Chair of Hospital Pediatrics
Margarita Fedorovna Dubko
Saint-Petersburg State Pediatric Medical University
Email: andrq@rambler.ru
MD, PhD, Associate Professor, Department of Hospital Pediatrics
Mikhail Mikhaylovich Kostik
Saint-Petersburg State Pediatric Medical University
Email: mikhail@yandex.ru
MD, PhD, Associate Professor, Department of Hospital Pediatrics
Vyacheslav Grigoryevich Chasnyk
Saint-Petersburg State Pediatric Medical University
Email: chasnyk@gmail.com
MD, Professor, Head, Chair of Hospital Pediatrics
References
- Arn P., Wraith J. E., Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I registry // J. of Pediatrics. — June 2009. — Vol. 154, N 6.
- Church H., Tylee K., Cooper A. et al. Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease. Bone Marrow Transplant. — 2007. — Vol. 39. — P. 207–210.
- Constantopoulos G., Iqbal K., Dekaban A. S. Mucopolysaccharidosis types IH, IS, II, and IIIA: glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues // J. Neurochem. — 1980. — Vol. 34. — P. 1399–1411.
- Di Ferrante N., Nichols B. L., Donnelly P.V. et al. Induced degradation of glycosaminoglycans in Hurler’s and Hunter’s syndromes by plasma infusion // Proc. Natl. Acad. Sci. U. S. A. — 1971. — Vol. 68. — P. 303–307.
- Dickson P., Peinovich M., McEntee M. et al. Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis // I. J. Clin. Invest. — 2008 Aug. — Vol. 118 (8). — P. 2868–2876.
- EBMT registry. http://www.ebmt.org/4Registry/registry1. html. 2007. Ref Type: Electronic Citation., IBMTR registry. http://www.cibmtr.org. 2007. Ref Type: Electronic Citation.
- 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. — Vol. 64. — P. 360–366.
- Guffon N., Souillet G., Maire I. et al. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation // J. Pediatr. — 1998. — Vol. 133. — P. 119–125.
- Hobbs J. R., Hugh-Jones K., Barrett A. J. et al. Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation // Lancet. — 1981. — Vol. 2. — P. 709–712
- Krivit W., Sung J. H., Shapiro E. G. et al. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant. — 1995. — Vol. 4. — P. 385–392.
- Pastores G., Muenzer J., Beck M., Clarke L., Wraith E. Long-term improvements in joint range of motion in mucopolysaccharidosis I (MPS I) patients treated with Aldurazyme® (Laronidase) in A phase 3 extention study. Presented at the Third Symposium on Lysosomal Storage Diseases. — April 6–8, 2006. — Berlin Germany.
- Peters C., Shapiro E. G., Anderson J. et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLAhaploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood. — 1998. — Vol. 91. — P. 2601–2608.
- Roubicek M., Gehler J., Spranger J. The clinical spectrum of alpha-L-iduronidase deficiency // Am. J. Med. Genet. — 1985. — Vol. 20. — P. 471–481.
- Souillet G., Guffon N., Maire I. et al. Outcome of 27 patients with Hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant. — 2003. — Vol. 31. — P. 1105–1117.
- Vellodi A., Young E. P., Cooper A. et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child. — 1997. — Vol. 76. — P. 92–99.
- Whitley C. B., Belani K. G., Chang P. N. et al. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am. J. Med. Genet. — 1993. — Vol. 46. — P. 209–218.
Supplementary files
![](/img/style/loading.gif)