Understanding MPS VII
A multisystemic, progressive, chronic genetic disease1-3
MPS VII is one of the rarest types of mucopolysaccharidoses2-4
Mucopolysaccharidosis VII (MPS VII), also called Sly syndrome, is a genetic metabolic disorder caused by a deficiency of the lysosomal enzyme β-glucuronidase.1,2
MPS VII is a heterogeneous and progressive disease. It requires early diagnosis for the best management and treatment outcomes.1,5
Signs and symptoms can involve multiple systems3,4,6
Neurological |
 |
Ophthalmological |
Ear, nose and throat |
Dental |
|
Gastrointestinal |
Cardiovascular |
|
Musculoskeletal |
Pulmonary |
MPS and NIHF
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References: 1. Mucopolysaccharidosis type VII. National Institutes of Health Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii. Accessed August 14, 2018. 2. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v4-v12. 3. Montaño AM, Lock-Hock N, Steiner RD, et al. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet. 2016;53(6):403-418. 4. National MPS Society. A Guide to Understanding MPS. Durham, NC: National MPS Society. https://mpssociety.org/cms/wp-content/uploads/2017/04/MPS_VII_2008.pdf. Accessed August 14, 2018. 5. Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v41-v48. 6. Cimaz R, Coppa GV, Koné-Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J. 2009;7:18.