KEGG   DISEASE: MucopolysaccharidosisHelp
H00421                      Disease                                

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]
Lysosomal storage disease [DS:H01425]
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.
Inherited metabolic disease; Lysosomal storage disease
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
hsa00531  Glycosaminoglycan degradation
hsa04142  Lysosome
nt06012  Glycosaminoglycan degradation
N00611  HYAL1 deficiency in dermatan sulfate degradation
N00612  ARSB deficiency in dermatan sulfate degradation
N00613  IDUA deficiency in dermatan sulfate degradation
N00614  IDS deficiency in dermatan sulfate degradation
N00616  GNS deficiency in heparan sulfate degradation
N00617  GUSB deficiency in heparan sulfate degradation
N00618  NAGLU deficiency in heparan sulfate degradation
N00619  HGSNAT deficiency in heparan sulfate degradation
N00620  SGSH deficiency in heparan sulfate degradation
N00621  IDUA deficiency in heparan sulfate degradation
N00622  IDS deficiency in heparan sulfate degradation
N00624  GNS deficiency in keratan sulfate degradation
N00625  GLB1 deficiency in keratan sulfate degradation
N00626  GALNS deficiency in keratan sulfate degradation
(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]
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
Heese BA
Current strategies in the management of lysosomal storage diseases.
Semin Pediatr Neurol 15:119-26 (2008)
Diez-Roux G, Ballabio A
Sulfatases and human disease.
Annu Rev Genomics Hum Genet 6:355-79 (2005)
Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA
Laronidase treatment of mucopolysaccharidosis I.
BioDrugs 19:1-7 (2005)
PMID:8680403 (MPS1)
Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Hum Mutat 6:288-302 (1995)
PMID:18618289 (MPS2)
Al Sawaf S, Mayatepek E, Hoffmann B
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
J Inherit Metab Dis 31:473-80 (2008)
PMID:18392742 (MPS3)
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA
Sanfilippo syndrome: a mini-review.
J Inherit Metab Dis 31:240-52 (2008)
PMID:19472408 (MPS4B)
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
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hum Mutat 30:1214-21 (2009)
PMID:17671068 (MPS6)
Giugliani R, Harmatz P, Wraith JE
Management guidelines for mucopolysaccharidosis VI.
Pediatrics 120:405-18 (2007)
PMID:19224584 (MPS7)
Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Hum Mutat 30:511-9 (2009)
PMID:10339581 (MPS9)
Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
Proc Natl Acad Sci U S A 96:6296-300 (1999)

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