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Published online August 1, 2007
PEDIATRICS Vol. 120 No. 2 August 2007, pp. 405-418 (doi:10.1542/peds.2006-2184)
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SPECIAL ARTICLE

Management Guidelines for Mucopolysaccharidosis VI

Roberto Giugliani, MD, PhDa, Paul Harmatz, MDb, James E. Wraith, MDc

a Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
b Children's Hospital and Research Center Oakland, Oakland, California
c Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controlled trials, meta-analyses, systematic reviews, and expert opinion. In support of this goal, comprehensive management guidelines have been drafted by an international group of experts in the management of patients with mucopolysaccharidosis VI. The guidelines provide a detailed outline of disease manifestations by body system, recommendations for regular assessments, and an overview of current treatment options.

Key Words: mucopolysaccharidosis • Maroteaux-Lamy syndrome • lysosomal storage disease • N-acetylgalactosamine-4-sulfatase • arylsulfatase B • galsulfase • hematopoietic stem cell transplantation

Abbreviations: LSD—lysosomal storage disease • MPS VI—mucopolysaccharidosis VI • ASB—arylsulfatase B • ERT—enzyme-replacement therapy • FDA—Food and Drug Administration • HSCT—hematopoietic stem cell transplantation • rhASB—recombinant human arylsulfatase B • 12MWT—12-minute walk test • 3MSC—3-minute stair climb • SAE—serious adverse event • CPAP—continuous positive airway pressure • IOP—intraocular pressure • ICP—intracranial pressure • CTS—carpal tunnel syndrome • CSP—Clinical Surveillance Program

Accepted Mar 28, 2007.


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