Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation
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Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation Ching-Chia Wang, Wuh-Liang Hwu, Kai-Hsin Lin Taipei, Taiwan, China
Case report
Background: Mucopolysaccharidosis type VI (MPS VI or Maroteaux-Lamy syndrome) is a rare autosomal recessive genetic disorder. We treated a 10-year-old girl with Maroteaux-Lamy syndrome successfully with bone marrow transplantation (BMT). Methods: The patient had reconstitution with bone marrow from her HLA-matched brother. One month after BMT, arylsulfatase activity of the recipient's leukocytes became normal. No graft-versushost disease (GVHD) was observed. Arylsulfatase B activity was maintained and the urinary excretion of glycosaminoglycans (GAGs) became normal. Results: The clinical response of the patient was slow but persistent during 12 years after BMT. Improved motor function included walking alone for a long distance without aid, riding a bicycle, taking a bath by herself, etc. Besides, few infections occurred. Exertional dyspnea, severe snoring, and vertigo were much improved.
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Conclusions: Early intervention is recommended for BMT. Allogeneic BMT may provide a better life quality as illustrated in the present case.
due to an inherited defect in arylsulfatase B activity (ASB, EC 3.1.6.12, or N-acetylgalactosamine-4-sulfatase), which in turn causes accumulation of dermatan sulfate and chondroitin sulfate within lysosomes in tissues.[1] This disease was first described by Maroteaux and Lamy et al[2] in 1963 as a Hurler-like (MPS I) disorder, but unlike MPS I, the intelligence was intact. Mutations within the gene encoding N-acetylgalactosamine 4-sulfatase may account for the disease. The severity of MPS VI depends on the levels of enzyme activity in various tissues involved. MPS VI disease can be treated by bone marrow transplantation (BMT)[3] that corrects the patient's cells through the uptake of the normal enzyme secreted by bone marrow-derived cells especially macrophages or, as recently reported, by enzyme replacement therapy (ERT)[4] providing a source of a recombinant human arylsulfatase B. In this report, we describe the biochemical, cytogenetical and clinical findings in a 22-year-old female MPS VI patient, who received BMT 12 years ago when she was 10 years old.
World J Pediatr 2008;4(2):152-154 Key words: arylsulfatase; bone marrow transplantation; glycosaminoglycan; mucopolysaccharidosis type VI
Introduction
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ucopolysaccharidosis type VI (MPS VI; MIM#253200) or Maroteaux-Lamy syndrome is a rare autosomal recessive genetic disorder
Author Affiliations: Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan, China (Wang CC, Hwu WL, Lin KH) Corresponding Author: Kai-Hsin Lin, Department of Pediatrics, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei 100, Taiwan, China (Tel: 886-2-2312-3456 ext 5988; Fax: 886-2-2393-4749; Email: [email protected])
©2008, World J Pediatr. All rights reserved. World J Pediatr, Vol 4 N
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