MPS VII, also known as Sly syndrome, is a progressive, multisystemic disease caused by a deficiency of the enzyme β-glucuronidase, which is required for the degradation of the glycosaminoglycans (GAGs) heparan sulphate, dermatan sulphate, and chondroitin sulphate.1
MPS VII can present as early as birth with hydropsis fetalis, or as a young child or adolescent with delayed motor development, mild to severe cognitive impairment and multiorgan disease.1-4
Key management considerations
References: 1. Tomatsu S et al. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat 2009;30(4):511-519. 2. Gehler J et al. Mucopolysaccharidosis VII: β-glucuronidase deficiency. Humangenetik 1974;23(2):149-158. 3. Bernsen PLJA et al. Phenotypic expression in mucopolysaccharidosis VII. J Neurol Neurosurg Psychiatry 1987;50(6):699-703. 4. Gniadek TJ et al. Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome). Cardiovasc Pathol 2015;24(5):322-326. 5. Nampoothiri S et al. Sly disease: mucopolysaccharidosis type VII. Indian Pediatr 2008;45(10):859-861. 6. Yamada Y et al. Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant 1998;21(6):629-634. 7. Fox JE et al. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient. Mol Genet Metab 2015;114(2):203-208. 8. Muenzer J, Beck M, Eng CM, et al.Genet Med. 2011;13(2):95–101. doi:10.1097/GIM.0b013e3181fea459. 9. Online Mendelian Inheritance in Man, OMIM. Baltimore, MD: Johns Hopkins University Press. http://www.ncbi.nlm.nih.gov/omim. Updated December 20, 2015. Accessed December 21, 2015.