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What does hurler syndrome mean? This page is about the various possible meanings of the acronym, abbreviation, shorthand or slang term: hurler syndrome.
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What does hurler syndrome mean?
- Hurler syndrome
- Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart. The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible breaking down GAGs. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler-Scheie Syndrome (MPS-IHS) and Scheie Syndrome (MPS-IS). Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.
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"hurler syndrome." Abbreviations.com. STANDS4 LLC, 2024. Web. 26 Apr. 2024. <https://www.abbreviations.com/hurler%20syndrome>.
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