| H00128 | |
| H number | H00128 |
| Name | Mucopolysaccharidosis type I; Hurler-Scheie syndrome; Hurler syndrome; Scheie syndrome |
| Description | Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. Hurler syndrome is characterized by coarse faces, hydrocephalus, dysostosis multiplex, cardiac valve disease, airway obstruction, and mental retardation. Scheie syndrome is a milder form. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | nt06012(H00128) Glycosaminoglycan degradation |
| Gene | (MPS1) IDUA [HSA:3425] [KO:K01217] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Laronidase [DR:D04670] |
| Comment | - |
| Other DBs | ICD-11: 5C56.30 ICD-10: E76.0 MeSH: D008059 OMIM: 607014 607015 607016 |
| 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:18050087 AUTHORS El Dib RP, Pastores GM TITLE Laronidase for treating mucopolysaccharidosis type I. JOURNAL Genet Mol Res 6:667-74 (2007) PMID:7550242 (MPS1) AUTHORS Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A TITLE Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. JOURNAL Hum Mutat 6:91-4 (1995) DOI:10.1002/humu.1380060119 |