| H00421 | |
| H number | H00421 |
| Name | Mucopolysaccharidosis |
| Description | Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is an X-linked disease and the others are autosomal recessive diseases. The enzyme defects result in the accumulation of glycosaminoglycans such as heparan sulfate, dermatan sulfate, and keratan sulfate in many organs, as well as elevated metabolite levels in urine. The MPS diseases share many clinical features that include organomegaly, dysostosis multiplex, decreased growth, and recurrent infections. Most of MPS diseases do not affect the nervous system, and are considered as potentially amenable to enzyme replacement therapy. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | nt06012 Glycosaminoglycan degradation |
| Gene | (MPS1) IDUA [HSA:3425] [KO:K01217] (MPS2) IDS [HSA:3423] [KO:K01136] (MPS3A) SGSH [HSA:6448] [KO:K01565] (MPS3B) NAGLU [HSA:4669] [KO:K01205] (MPS3C) HGSNAT [HSA:138050] [KO:K10532] (MPS3D) GNS [HSA:2799] [KO:K01137] (MPS4A) GALNS [HSA:2588] [KO:K01132] (MPS4B) GLB1 [HSA:2720] [KO:K12309] (MPS6) ARSB [HSA:411] [KO:K01135] (MPS7) GUSB [HSA:2990] [KO:K01195] (MPS9) HYAL1 [HSA:3373] [KO:K01197] (MPS10) ARSK [HSA:153642] [KO:K12376] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | The diagnosis is confirmed by measuring IDS activity in leukocytes or fibroblasts. Morquio syndrome B (MPS4B) is allelic to the various forms of GM1-gangliosidosis (see, H00281). The latter disorders show central nervous system involvement. |
| Other DBs | ICD-11: 5C56.3 ICD-10: E76.0 E76.1 E76.2 OMIM: 607014 607015 607016 309900 252900 252920 252930 252940 253000 253010 253200 253220 601492 619698 |
| Reference | 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 PMID:16124866 AUTHORS Diez-Roux G, Ballabio A TITLE Sulfatases and human disease. JOURNAL Annu Rev Genomics Hum Genet 6:355-79 (2005) DOI:10.1146/annurev.genom.6.080604.162334 PMID:15691212 AUTHORS Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA TITLE Laronidase treatment of mucopolysaccharidosis I. JOURNAL BioDrugs 19:1-7 (2005) DOI:10.2165/00063030-200519010-00001 PMID:8680403 (MPS1) AUTHORS Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ TITLE Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. JOURNAL Hum Mutat 6:288-302 (1995) DOI:10.1002/humu.1380060403 PMID:18618289 (MPS2) AUTHORS Al Sawaf S, Mayatepek E, Hoffmann B TITLE Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. JOURNAL J Inherit Metab Dis 31:473-80 (2008) DOI:10.1007/s10545-008-0878-x PMID:18392742 (MPS3) AUTHORS Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA TITLE Sanfilippo syndrome: a mini-review. JOURNAL J Inherit Metab Dis 31:240-52 (2008) DOI:10.1007/s10545-008-0838-5 PMID:19472408 (MPS4B) AUTHORS Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E TITLE GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. JOURNAL Hum Mutat 30:1214-21 (2009) DOI:10.1002/humu.21031 PMID:17671068 (MPS6) AUTHORS Giugliani R, Harmatz P, Wraith JE TITLE Management guidelines for mucopolysaccharidosis VI. JOURNAL Pediatrics 120:405-18 (2007) DOI:10.1542/peds.2006-2184 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:10339581 (MPS9) AUTHORS Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR TITLE Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. JOURNAL Proc Natl Acad Sci U S A 96:6296-300 (1999) DOI:10.1073/pnas.96.11.6296 PMID:34916232 (MPS10) AUTHORS Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, Andrae D, Spross J, Vaz FM, Kircher SG, Posch-Pertl L, Baumgartner D, Lubke T, Shah H, Al Kaissi A, Girisha KM, Plecko B TITLE Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. JOURNAL J Med Genet 59:957-964 (2022) DOI:10.1136/jmedgenet-2021-108061 |