Mucopolysaccharidosis VII (MPS VII) Disease (Sly Syndrome)
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Metabolic defect: beta-glucuronidase deficiency
Other glycosaminoglycans metabolism diseases (mucopolysaccharidoses): MPS I | MPS II | MPS III | MPS IV | MPS VI
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| Etiology & Pathogenesis [1,2]Enzyme deficiency results in progressive accumulation of the glycosaminoglycans (gags) dermatan sulfate and heparan sulfate. Key Symptom Images
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| Hepatosplenomegaly |
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Hernia |
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Corneal clouding |
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Image Credits: Hernia courtesy of Atlas of Metabolic Diseases, Arnold, 1998. Corneal clouding courtesy of Desnick et al., 2003, with permission from author and publisher.
Clinical Description and Progression/Prognosis [1,2]Rare form of MPS; progressive disorder with multiple organ and tissue involvement. Wide spectrum of clinical severity. Variable onset from neonatal to later (after 4 years of age). Neonatal form is one of the few lysosomal storage disorders with clinical manifestations in utero or at birth. Survival ranges from death in utero to adulthood. Inheritance pattern: autosomal recessive Incidence: 1 in 2,111,000 live births [3] Diagnosis: enzyme assay Conditions with similar presentations: MPS IH, MPS II Management: bone marrow transplantation in some cases Other medical care: symptom management
 Hepatomegaly Umbilical and/or inguinal hernias Enlarged head Deformed chest (pectus carinatum) Moderate skeletal abnormalities Ocular
Corneal clouding (variable)
Endocrine Short stature Developmental delay Back to categories
1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: The Metabolic Bases of Inherited Disease. New York: mcgraw Hill, 2001; 3421-3452.
2. Clarke LA. Clinical diagnosis of lysosomal storage diseases. In: Applegarth DA, Dimmick JE, JG Hall. Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis and Management. London: Chapman and Hall 1997; 37-71.
3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA. 1999; 281: 249-254. |
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