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Hurler Syndrome

Hurler syndrome is a rare genetic disorder that prohibits a person from making a specific substance, lysosomal alpha-L-iduronidase. This enzyme is vital in a person’s metabolism, and Hurler syndrome prevents the body from breaking down glycosaminoglycan, long chains of sugar molecules. When a person has Hurler syndrome, glycosaminoglycan build up in the body, damaging organs.Hurler Syndrome

Hurler syndrome is named after German pediatrician Gertrud Hurler (1889-1965). It is a rare condition, affecting around 1 in every 100,000 individuals, but it is a genetic condition, meaning that it is inherited. Those born with Hurler syndrome have a defect in the IDUA gene, somewhere along chromosome 4. In 2001, some 52 different mutations of the IDUA were known to cause Hurler syndrome.

Hurler syndrome is marked by progressive deterioration in the person, including dwarfism, unique facial features, hepatosplenomegaly (enlargement of the liver and spleen) and mental retardation. Most individuals with Hurler syndrome die by the age of ten. These individuals stop developing between the ages of 2 and 4. Diagnosis is made through both clinical examination and urine test. Genetic counseling is available for individuals known to have a family history of Hurler syndrome. There is no cure for Hurler syndrome, but scientists are attempting to treat it with gene therapy.

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