KEGG   DISEASE: MucopolysaccharidosisHelp
Entry
H00421                      Disease                                

Name
Mucopolysaccharidosis
  Subgroup
Hurler-Scheie syndrome (type1) [DS:H00128]
Hunter syndrome (type2) [DS:H00129]
Sanfilippo syndrome (type3) [DS:H00130]
Morquio syndrome (type4) [DS:H00123]
Maroteaux-Lamy syndrome (type6) [DS:H00131]
Sly syndrome (type7) [DS:H00132]
Hyaluronidase deficiency (type9) [DS:H00133]
  Supergrp
Lysosomal storage disease [DS:H01425]
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 disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Lysosomal storage diseases
   H00421  Mucopolysaccharidosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00421  Mucopolysaccharidosis
BRITE hierarchy
Pathway
hsa00531  Glycosaminoglycan degradation
hsa04142  Lysosome
Gene
(MPS1) IDUA; alpha-L-iduronidase [HSA:3425] [KO:K01217]
(MPS2) IDS; iduronate 2-sulfatase [HSA:3423] [KO:K01136]
(MPS3A) SGSH; N-sulfoglucosamine sulfohydrolase [HSA:6448] [KO:K01565]
(MPS3B) NAGLU; alpha-N-acetylglucosaminidase [HSA:4669] [KO:K01205]
(MPS3C) HGSNAT; heparan-alpha-glucosaminide N-acetyltransferase [HSA:138050] [KO:K10532]
(MPS3D) GNS; N-acetylglucosamine-6-sulfatase [HSA:2799] [KO:K01137]
(MPS4A) GALNS; N-acetylgalactosamine-6-sulfatase [HSA:2588] [KO:K01132]
(MPS4B) GLB1; beta-galactosidase [HSA:2720] [KO:K12309]
(MPS6) ARSB; arylsulfatase B [HSA:411] [KO:K01135]
(MPS7) GUSB; beta-glucuronidase [HSA:2990] [KO:K01195]
(MPS9) HYAL1; hyaluronoglucosaminidase [HSA:3373] [KO:K01197]
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: 607015 607016 309900 252900 252920 252930 252940 253000 253010 253200 253220 601492
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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

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