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Pathway Description
Mucopolysaccharidosis VII. Sly Syndrome
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Mucopolysaccharidosis type VII (MPS VII), also called Sly syndrome, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by mutations in the GUSB gene. This gene encodes for the beta-glucuronidase enzyme, which normally breaks down glycosaminoglycans (GAGs). However, without beta-glucuronidase, accumulation of GAGs in cells specifically the lysosome increases. The increase in cell size causes tissues and organs to become enlarged as well. This disorder is characterized by macrocephaly, a buildup of fluid in the brain, characteristic facial features, and a large tongue. Other symptoms may include hepatosplenomegaly, heart valve abnormalities, and umbilical or inguinal hernias. MPS VII also causes various skeletal abnormalities, including joint issues and decreased growth. Treatments such as enzyme replacement therapy are still fairly new, however traditionally treatments for Mucopolysaccharidosis VII included symptom relief such as surgery. It is estimated that MPS VII affects 1 in 250,000 individuals.
References
Mucopolysaccharidosis VII. Sly Syndrome References
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Starch and Sucrose Metabolism References
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Pubmed: 22673903
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Pubmed: 16542652
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Pubmed: 2268340
Broyart JP, Hugot JP, Perret C, Porteu A: Molecular cloning and characterization of a rat intestinal sucrase-isomaltase cDNA. Regulation of sucrase-isomaltase gene expression by sucrose feeding. Biochim Biophys Acta. 1990 Sep 10;1087(1):61-7. doi: 10.1016/0167-4781(90)90121-h.
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Pubmed: 15632090
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000556
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