What is Hurler syndrome?
Hurler syndrome is a significantly rare genetic medical condition in which the body has a malfunctioning enzyme called lysosomal alpha-L-iduronidase, making it unable to break down sugar molecules called glycosaminoglycans. This incidemt results in a gradual buildup of glycosaminoglycans, which lead to Hurler syndrome with a variety of symptoms and complications.
How common is Hurler syndrome?
Hurler syndrome is extremely uncommon. Please discuss with your doctor for further information.
What are the symptoms of Hurler syndrome?
The common symptoms of Hurler syndrome are:
- Spinal abnormalities
- Claw hand
- Corneas which may appear cloudy in appearance
- Growth retardation
- Heart valve abnormalities
- Joint stiffness
- Thick facial features
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Hurler syndrome?
Hurler syndrome is caused due to a malfunctioning enzyme called lysosomal alpha-L-iduronidase which facilitates breakdown of the sugar molecule called glycosaminoglycans. These molecules are present throughout the body and are usually located around the joints or in the mucous. With the enzyme not being able to breakdown the sugar molecule, there is a gradual buildup of glycosaminoglycans in the body which starts to cause significant damage to the organs of the body to include the heart and may cause significant complications. As stated, Hurler syndrome is a genetic medical condition which is autosomal recessive meaning that both parents should carry the defective gene in order for the offspring to develop the disease.
What increases my risk for Hurler syndrome?
Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Hurler syndrome diagnosed?
Some of the measures utilized to diagnose hurler syndrome are:
- Genetic testing to identify mutation of the alpha-L-iduronidase gene which causes Hurler Syndrome
- Urine tests to look for elevated levels of glycosaminoglycans
- Spinal x-rays to look for deformities
How is Hurler syndrome treated?
There is no clear cut treatment for Hurler Syndrome and treatments are usually aimed at controlling the symptoms; however, there are some investigational treatments which have shown some effectiveness in treatment of Hurler Syndrome and these measures are:
- Enzyme replacement therapy: In this mode of treatment, the offending enzyme is replaced with a healthy enzyme. This is usually done through a medication called laronidase which is administered intravenously
- Bone marrow transplant: This method of treatment has also shown great promise in helping with the symptoms of hurler syndrome.
- Apart from these treatments, other treatments are dependent on the organs affected by hurler syndrome.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Hurler syndrome?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Review Date: February 23, 2018 | Last Modified: January 30, 2018
Hurler Syndrome: Causes, Symptoms, Diagnosis, Treatment, Prognosis, Life Expectancy https://www.epainassist.com/genetic-disorders/hurler-syndrome Accessed February 23, 2018
Hurler syndrome https://rarediseases.info.nih.gov/diseases/12559/hurler-syndrome Accessed February 23, 2018