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MPS VI requires a high index of suspicion

Wide variability in the progression and clinical presentation of MPS VI, coupled with disease rarity, creates a diagnostic challenge.3

Because increased GAG accumulation may be associated with a greater rate of disease progression, early diagnosis followed by early treatment, is imperative.3,4

Clinical manifestations of MPS VI3

Clinical Manifestations in mucopolysaccharidosis VI

According to the 2007 Management Guidelines for Mucopolysaccharidosis VI, management of the progressive, multisystemic disease manifestations is essential. Although treatment options have been limited in the past, the availability of enzyme replacement therapy with NAGLAZYME® (galsulfase) has generated hope for significant improvements in the outlook for MPS VI patients.2

 Next: Identify suspicious clusters

References

  1. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405-418.
  2. Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004;144(5 Suppl):S3–S14.
  3. 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.