 | DISEASE: Mucopolysaccharidosis type I | Help |
| Entry | |
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| Name | Mucopolysaccharidosis type I;Hurler-Scheie syndrome;Hurler syndrome;Scheie syndrome |
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| Supergrp | Mucopolysaccharidosis [DS:H00421]Lysosomal storage disease [DS:H01425] |
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| 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. |
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| Category | Inherited metabolic disorder, Lysosomal disease |
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| Brite | Human diseases in ICD-11 classification [BR:br08403] 05 Endocrine, nutritional or metabolic diseases Metabolic disorders Inborn errors of metabolism 5C56 Lysosomal diseases H00128 Mucopolysaccharidosis type I Pathway-based classification of diseases [BR:br08402] Glycan/glycoprotein metabolism nt06012 Glycosaminoglycan degradation H00128 Mucopolysaccharidosis type I BRITE hierarchy |
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| Pathway | | hsa00531 | Glycosaminoglycan degradation |
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| Network | nt06012 Glycosaminoglycan degradation |
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| Gene | (MPS1) IDUA [HSA:3425] [KO:K01217] |
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| Drug | Laronidase [DR:D04670] |
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| Other DBs | | OMIM: | 607014 607015 607016 |
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| Reference | PMID:18708002 |
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| Authors | Heese BA |
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| Title | Current strategies in the management of lysosomal storage diseases. |
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| Journal | Semin Pediatr Neurol 15:119-26 (2008)DOI:10.1016/j.spen.2008.05.005 |
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| Reference | PMID:16124866 |
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| Authors | Diez-Roux G, Ballabio A |
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| Title | Sulfatases and human disease. |
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| Journal | Annu Rev Genomics Hum Genet 6:355-79 (2005)DOI:10.1146/annurev.genom.6.080604.162334 |
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| Reference | PMID:18050087 |
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| Authors | El Dib RP, Pastores GM |
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| Title | Laronidase for treating mucopolysaccharidosis type I. |
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| Journal | Genet Mol Res 6:667-74 (2007) |
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| Reference | PMID:7550242 (MPS1) |
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| Authors | Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A |
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| Title | Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. |
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| Journal | Hum Mutat 6:91-4 (1995)DOI:10.1002/humu.1380060119 |
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