H00123 | |
H number | H00123 |
Name | Mucopolysaccharidosis type IV |
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 |
Network | nt06012(H00123) Glycosaminoglycan degradation |
Gene | (MPS4A) GALNS [HSA:2588] [KO:K01132] (MPS4B) GLB1 [HSA:2720] [KO:K12309] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
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 | PMID:16854371 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 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) 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 |