Hurler Syndrome: Causes, Symptoms & Treatment
Author: Thomas C. Weiss : Contact: Disabled World
Published: 2010-04-06 : (Rev. 2015-12-08)
Synopsis and Key Points:
Information regarding Hurler syndrome, a form of rare and inherited disease involving human metabolism.
Defining Hurler Syndrome
Hurler syndrome is a form of rare and inherited disease involving a person's metabolism. The syndrome affects a person's metabolism so that it is unable to break down long chains of sugar molecules called, 'glycosaminoglycans,' which were formerly referred to as, 'mucopolysaccarides.' Hurler syndrome belongs to a group of diseases referred to as, 'mucopolysaccaridoses,' or MPS. Other forms of the disorder include MPS II, III, IV, and MPS IS or, 'Scheie syndrome.'
Causes of Hurler Syndrome
People affected by Hurler syndrome are unable to produce a substance called, 'lysosomal alpha-L-iduronidase.' The substance is an enzyme that assists in breaking down long chains of sugar molecules called glycosaminoglycans. These sugar molecules are located throughout the person's body, many times in the person's mucus and in the fluid around the person's joints. Without the lysosomal alpha-L-iduronidase enzyme, glucosaminoglycans build up in the affected person's system and cause damage to their organs, to include their heart. The symptoms the person experiences may range anywhere from mild to severe.
Hurler syndrome is a form of inherited syndrome. What this means is that a person's parents must pass the disease on to their children. Both of a person's parents must pass down the faulty gene for the syndrome in order for their child to develop Hurler syndrome. The most severe form of Hurler syndrome is categorized as MPS I or MPS I H.
Symptoms of Hurler Syndrome
The symptoms associated with Hurler syndrome many times appear in persons affected between the ages of three and eight. Infants who are affected with severe Hurler syndrome present as average at the time of their birth. The facial symptoms might become more noticeable during the first two years of the affected person's life. The symptoms of Hurler syndrome can include the following:
- Claw hand
- Halted growth
- Cloudy corneas
- Heart value problems
- Abnormal bones in the spine
- Joint disease, including stiffness
- Mental retardation that gets worse over time
- Thick, coarse facial features with low nasal bridge
Diagnosing Hurler Syndrome
A diagnosis of Hurler syndrome can be achieved using the following exams and tests. Doctors may use an EKG, genetic testing for the alpha-L-iduronidase gene, or urine tests for extra mucopolysaccarides. A radiologist may take X-rays of the affected person's spine for additional confirmation by a doctor of Hurler syndrome.
Treatment of Hurler Syndrome
Treatment of Hurler syndrome can involve enzyme replacement therapy. Enzyme replacement therapy adds a working form of the missing lysosomal alpha-L-iduronidase enzyme to the person with Hurler syndrome's body. Another form of treatment option may include bone marrow transplantation. Bone marrow transplant has been used in a number of people with Hurler syndrome. Use of bone marrow transplants has had mixed results in persons with Hurler syndrome. Other forms of treatment that may be ordered by a doctor or applied depend upon the particular organ that has been affected by the syndrome.
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