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About Maroteaux-Lamy Syndrome (MPS VI)

A devastating yet under diagnosed condition

MPS VI is a progressive lysosomal storage disorder (LSD) that results from a deficiency in the arylsulfatase B (ASB) enzyme. Lysosomes deficient in ASB retain excessive amounts of glycosaminoglycans (GAG), leading to multisystemic organ damage.2,4 An estimated 1,100 people worldwide are living with MPS VI.4

While some patients have rapidly progressing disease, others do not present with signs and symptoms until adolescence.2 Yet, MPS VI-related multisystemic abnormalities and significant functional disability are life-altering.2

Increased GAG accumulation may be associated with a greater rate of disease progression

Although there is no cure for MPS VI, patients’ risk of increasingly impaired endurance and significant disability creates2 an urgent need for a management strategy based on early suspicion, rapid referral, and immediate treatment that targets ASB and reduces GAG accumulation.

Early treatment may optimize outcomes and the potential benefits of ERT with NAGLAZYME® (galsulfase).7 Early diagnosis, referral and treatment are essential.

 Next: Biochemical basis of MPS VI

REFERENCES

  1. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405-418.
  1. 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;134:144–150.
  1. Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a Phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr. 2006;148:533-539.