Hurler syndrome overview: Difference between revisions
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Created page with "__NOTOC__ {{Hurler syndrome}} {{CMG}} ==Overview== '''Hurler syndrome''', also known as '''mucopolysaccharidosis type I''' ('''MPS I'''), '''Hurler's disease''' and '''g..." |
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==Overview== | ==Overview== | ||
'''Hurler syndrome''', also known as | '''Hurler syndrome''', also known as [[mucopolysaccharidosis]] type I (MPS I), Hurler's disease and gargoylism<ref>Gargoylism. gpnotebook.co.uk. URL: [http://www.gpnotebook.co.uk/cache/1644560391.htm http://www.gpnotebook.co.uk/cache/1644560391.htm]. Accessed on: April 29, 2007.</ref>, is a [[genetic disorder]] that results in the deficiency of [[alpha-L iduronidase]], which is an [[enzyme]] that breaks down [[mucopolysaccharides]]. Without this enzyme, the buildup of [[heparan sulfate]] and [[dermatan sulfate]] occurs in the body (the [[heart]], [[liver]], [[brain]] etc.). [[Symptom]]s appear during childhood and early death can occur due to [[organ (anatomy)|organ]] damage. | ||
==References== | ==References== | ||
Revision as of 14:48, 19 November 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease and gargoylism[1], is a genetic disorder that results in the deficiency of alpha-L iduronidase, which is an enzyme that breaks down mucopolysaccharides. Without this enzyme, the buildup of heparan sulfate and dermatan sulfate occurs in the body (the heart, liver, brain etc.). Symptoms appear during childhood and early death can occur due to organ damage.
References
- ↑ Gargoylism. gpnotebook.co.uk. URL: http://www.gpnotebook.co.uk/cache/1644560391.htm. Accessed on: April 29, 2007.