KEGG   DISEASE: Mucopolysaccharidosis type IVHelp
Entry
H00123                      Disease                                

Name
Mucopolysaccharidosis type IV
  Subgroup
Morquio syndrome A (MPS4A)
Morquio syndrome B (MPS4B)
  Supergrp
Mucopolysaccharidosis [DS:H00421]
Lysosomal storage disease [DS:H01425]
Description
Mucopolysaccharidosis type IV (MPS4) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of keratan sulfate and chondroitin sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include normal cognition, coarse faces, and dysostosis multiplex.
Category
Inherited metabolic disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00123  Mucopolysaccharidosis type IV
  Lysosomal storage diseases
   H00123  Mucopolysaccharidosis type IV
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00123  Mucopolysaccharidosis type IV
BRITE hierarchy
Pathway
hsa00531  Glycosaminoglycan degradation
hsa04142  Lysosome
Gene
(MPS4A) GALNS; N-acetylgalactosamine-6-sulfatase [HSA:2588] [KO:K01132]
(MPS4B) GLB1; beta-galactosidase [HSA:2720] [KO:K12309]
Drug
Elosulfase alfa [DR:D10333]
Comment
Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, H00281). The latter disorders show central nervous system involvement.
Other DBs
ICD-11: 5C56.32
ICD-10: E76.2
MeSH: D009085
OMIM: 253000 253010
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
Kolter T, Sandhoff K
  Title
Sphingolipid metabolism diseases.
  Journal
Biochim Biophys Acta 1758:2057-79 (2006)
DOI:10.1016/j.bbamem.2006.05.027
Reference
  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
  Authors
Suzuki Y
  Title
Chemical chaperone therapy for GM1-gangliosidosis.
  Journal
Cell Mol Life Sci 65:351-3 (2008)
DOI:10.1007/s00018-008-7470-2

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