Hurler syndrome
| Hurler syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | E76.0 |
| ICD-9-CM | 277.5 |
| OMIM | 607014 |
| DiseasesDB | 6067 |
| MedlinePlus | 001204 |
| eMedicine | ped/1031 |
| MeSH | D008059 |
| GeneReviews | |
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. Hunter syndrome is X-linked while Hurler syndrome is autosomal recessive.
It is named for Gertrud Hurler (1889–1965), a German pediatrician.
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.
Children born to an MPS I parent carry a defective IDUA gene, which has been mapped to the 4p16.3 site on chromosome 4. The gene is named IDUA because of its iduronidase enzyme protein product. As of 2001[update], 52 different mutations in the IDUA gene have been shown to cause Hurler syndrome.
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