| H00132 | |
| H number | H00132 |
| Name | Mucopolysaccharidosis type VII; Sly syndrome |
| Description | Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. This disorder is characterized by mental retardation, coarse faces, dysostosis multiplex, hepatosplenomegaly, and hydrops fetalis. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | nt06012(H00132) Glycosaminoglycan degradation |
| Gene | (MPS7) GUSB [HSA:2990] [KO:K01195] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Vestronidase alfa [DR:D11004] |
| Comment | Hematopoietic stem cell transplantation (limited experience) |
| Other DBs | ICD-11: 5C56.3Y ICD-10: E76.2 MeSH: D016538 OMIM: 253220 |
| Reference | PMID:16601332 AUTHORS Venkat-Raman N, Sebire NJ, Murphy KW TITLE Recurrent fetal hydrops due to mucopolysaccharidoses type VII. JOURNAL Fetal Diagn Ther 21:250-4 (2006) DOI:10.1159/000091350 PMID:19224584 (MPS7) AUTHORS Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS TITLE Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). JOURNAL Hum Mutat 30:511-9 (2009) DOI:10.1002/humu.20828 PMID:18708002 AUTHORS Heese BA TITLE Current strategies in the management of lysosomal storage diseases. JOURNAL Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 |