H00131 | |
H number | H00131 |
Name | Mucopolysaccharidosis type VI; Maroteaux-Lamy syndrome |
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 | Inherited metabolic disorder, Lysosomal disease |
Network | nt06012(H00131) Glycosaminoglycan degradation |
Gene | (MPS6) ARSB [HSA:411] [KO:K01135] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Galsulfase [DR:D06565] |
Comment | - |
Other DBs | ICD-11: 5C56.33 ICD-10: E76.2 MeSH: D009087 OMIM: 253200 |
Reference | PMID:18708002 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 PMID:16124866 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 PMID:20385007 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 PMID:1718978 (MPS6) AUTHORS Wicker G, Prill V, Brooks D, Gibson G, Hopwood J, von Figura K, Peters C TITLE Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. JOURNAL J Biol Chem 266:21386-91 (1991) |