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Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage. 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 α-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. Hurler syndrome is often classified as a lysosomal storage disease, and is clinically related to Hunter Syndrome.〔http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm〕 Hunter syndrome is X-linked while Hurler syndrome is autosomal recessive. It is named for Gertrud Hurler (1889–1965), a German pediatrician. ==Prevalence== Hurler syndrome has an overall frequency of 1 per 100,000. The mucopolysaccharidoses as a whole have a frequency of 1 in every 25,000 births. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Hurler syndrome」の詳細全文を読む スポンサード リンク
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