Hurler syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans.
Persons with Hurler syndrome do not make a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.
Without the enzyme, glycosaminoglycans build up and damage organs, including the heart. Symptoms can range from mild to severe.
* Short stature
* Severe mental retardation
* Thick, coarse facial features with low nasal bridge
* Full lips with a thick, large tongue
* Cloudy corneas
* Increased body hair (hirsutism)
* Umbilical hernia
* Stiffness (in joints)
* Shortness of breath
* Abnormal bones of spine and claw hand
- Hurler syndrome is the most severe of the mucopolysaccharidosis type I forms.
- It is also known as Mucopolysaccharidosis type I H, Hurler's disease or gargoylism.
- Symptoms of Hurler syndrome are often evident within the first year or two after birth and may vary somewhat from person to person.
- Growth in height may be faster than normal but begins to slow before the end of the first year and often ends around age 3.