Mucopolysaccharidosis Type VII (Sly Disease): Clinical, Genetic Diagnosis and Therapies

  • Denise J. Norato

Sly syndrome, or Mucopolysaccharidosis type VII (MPS VII), is a very rare autosomalrecessive lysosomal storage disorder (LSD) and about 30 cases have been described Sly syndrome is due to β-glucoronidase deficiency and shows a wide range of severity and system involvement heterogeneity similar to MPS I and II (Neufeld and Muenzer, 2001), with phenotypic extremes from the very severe fetal hydrops to the oligosymptomatic variant. This chapter gives an overall view of the clinical aspects, pathophysiology, molecular genetics, and the recent advances towards an effective therapy.


Enzyme Replacement Therapy GUSB Gene Severe Skeletal Dysplasia Nonimmune Hydrops Fetalis Lysosomal Distention 
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© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Denise J. Norato
    • 1
  1. 1.Medical School, Life Sciences CenterCatholic University of CampinasBrazil

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