Clinical manifestations of MPS VI
Glycosaminoglycans (GAGs) are a major component of connective tissues and organs throughout the body; as a result of excessive GAG buildup in MPS VI, the disease can affect many different organ systems; symptoms may vary widely, due in part to varying rates of disease progression.1,2 The most common effects of MPS VI are shown below:
Learn more about how MPS VI progresses »
References: 1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York: McGraw-Hill; 2001:3421-3452. 2. Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). Am J Med Genet A. 2005;134A(2):144-150. 3. Akyol MU, Alden TD, Amartino H, et al. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):118. 4. Ashworth JL, Kruse FE, Bachmann B, et al. Ocular manifestations in the mucopolysaccharidoses—a review. Clin Experiment Ophthalmol. 2010;38:12-22. 5. Alpoz AR, Çoker M, Çelen E, et al. The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101(5):632-637. 6. Yeung AH, Cowan MJ, Horn B, Rosbe KW. Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg. 2009;135(1):73-79. 7. Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004;144(suppl 5):S3-S14.