KEGG DISEASE: Mucopolysaccharidosis type IV

KEGG

DISEASE: Mucopolysaccharidosis type IV

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 disorder, Lysosomal disease

Brite

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
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
  nt06012  Glycosaminoglycan degradation
   H00123  Mucopolysaccharidosis type IV

Pathway

Glycosaminoglycan degradation

Lysosome

Network

nt06012 Glycosaminoglycan degradation

Gene

(MPS4A) GALNS [HSA:2588] [KO:K01132]
(MPS4B) GLB1 [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:

ICD-10:

MeSH:

OMIM:

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

PMID:8651279 (GALNS)

Authors

Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JF, Hori T, Kato Z, Yamada N, Isogai K, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T

Title

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Journal

Am J Hum Genet 58:950-62 (1996)

Reference

PMID:19472408 (GLB1)

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

LinkDB

» Japanese version

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