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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. | 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. | ||
==Classification== | |||
MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme alpha-L-iduronidase. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or [[Scheie syndrome]] and MPS I H-S or [[Hurler-Scheie syndrome]]. | |||
==References== | ==References== | ||
Revision as of 02:46, 26 February 2013
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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.
Classification
MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme alpha-L-iduronidase. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome.
References
- ↑ Gargoylism. gpnotebook.co.uk. URL: http://www.gpnotebook.co.uk/cache/1644560391.htm. Accessed on: April 29, 2007.