KEGG   DISEASE: Mucopolysaccharidosis type VI
Entry
H00131                      Disease                                

Name
Mucopolysaccharidosis type VI;
Maroteaux-Lamy syndrome
  Supergrp
Mucopolysaccharidosis [DS:H00421]
Lysosomal storage disease [DS:H01425]
Description
Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in the accumulation of dermatan sulfate and chondroitin 4-sulfate in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.
Category
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00131  Mucopolysaccharidosis type VI
  Lysosomal storage diseases
   H00131  Mucopolysaccharidosis type VI
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00131  Mucopolysaccharidosis type VI
Related
pathway
hsa04142  Lysosome
hsa00531  Glycosaminoglycan degradation
Network
nt06012  Glycosaminoglycan degradation
Gene
(MPS6) ARSB [HSA:411] [KO:K01135]
Drug
Galsulfase [DR:D06565]
Other DBs
ICD-11: 5C56.33
ICD-10: E76.2
MeSH: D009087
OMIM: 253200
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
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
  Title
Mucopolysaccharidosis VI.
  Journal
Orphanet J Rare Dis 5:5 (2010)
DOI:10.1186/1750-1172-5-5
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