What Is Hurler Syndrome?
Hurler Syndrome is a significantly rare genetic medical condition in which the body is unable to break down sugar molecules called glycosaminoglycans resulting in a gradual buildup of this molecule resulting in a variety of symptoms and complications. In this disease the body has a malfunctioning enzyme called lysosomal alpha-L-iduronidase which is not able to break down the sugar molecule causing Hurler Syndrome.
What Are The Causes Of Hurler Syndrome?
As stated, 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 Are The Symptoms Of Hurler Syndrome?
Some Of The 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
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
These above tests can definitively confirm the diagnosis of Hurler Syndrome.
What Are Treatments For Hurler Syndrome?
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.
Hurler Syndrome Prognosis And Life Expectancy
Overall prognosis of Hurler Syndrome is extremely poor and affected children may not be able to survive for long.