| H00421 | |
| H番号 | H00421 |
| 名称 | ムコ多糖症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | nt06012 Glycosaminoglycan degradation |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | 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. |
| リンク | 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 |
| 文献 | PMID:18708002 著者 Heese BA タイトル Current strategies in the management of lysosomal storage diseases. 雑誌 Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:16124866 著者 Diez-Roux G, Ballabio A タイトル Sulfatases and human disease. 雑誌 Annu Rev Genomics Hum Genet 6:355-79 (2005) DOI:10.1146/annurev.genom.6.080604.162334 PMID:15691212 著者 Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA タイトル Laronidase treatment of mucopolysaccharidosis I. 雑誌 BioDrugs 19:1-7 (2005) DOI:10.2165/00063030-200519010-00001 PMID:8680403 (MPS1) 著者 Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ タイトル Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. 雑誌 Hum Mutat 6:288-302 (1995) DOI:10.1002/humu.1380060403 PMID:18618289 (MPS2) 著者 Al Sawaf S, Mayatepek E, Hoffmann B タイトル Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. 雑誌 J Inherit Metab Dis 31:473-80 (2008) DOI:10.1007/s10545-008-0878-x PMID:18392742 (MPS3) 著者 Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA タイトル Sanfilippo syndrome: a mini-review. 雑誌 J Inherit Metab Dis 31:240-52 (2008) DOI:10.1007/s10545-008-0838-5 PMID:19472408 (MPS4B) 著者 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 タイトル GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 雑誌 Hum Mutat 30:1214-21 (2009) DOI:10.1002/humu.21031 PMID:17671068 (MPS6) 著者 Giugliani R, Harmatz P, Wraith JE タイトル Management guidelines for mucopolysaccharidosis VI. 雑誌 Pediatrics 120:405-18 (2007) DOI:10.1542/peds.2006-2184 PMID:19224584 (MPS7) 著者 Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS タイトル Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). 雑誌 Hum Mutat 30:511-9 (2009) DOI:10.1002/humu.20828 PMID:10339581 (MPS9) 著者 Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR タイトル Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. 雑誌 Proc Natl Acad Sci U S A 96:6296-300 (1999) DOI:10.1073/pnas.96.11.6296 PMID:34916232 (MPS10) 著者 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 タイトル Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. 雑誌 J Med Genet 59:957-964 (2022) DOI:10.1136/jmedgenet-2021-108061 |