Hurler syndrome is an inherited condition caused by a faulty gene. Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. As a result, undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs.
What is the difference between Hunter and Hurler syndrome?
Hunter syndrome (mucopolysaccharidosis II, MPS II) is distinguished from Hurler syndrome by an X-linked recessive inheritance, longer survival, lack of corneal clouding, the characteristic papulonodules, and the different biochemical defect.
What are the symptoms of Hurler syndrome?
Some of the symptoms include:
- Abnormal bones in the spine.
- Inability to fully open the fingers (claw hand)
- Cloudy corneas.
- Deafness.
- Halted growth.
- Heart valve problems.
- Joint disease, including stiffness.
- Intellectual disability that gets worse over time in severe MPS I.
What is the cause of Hurler syndrome?
Hurler syndrome is caused by a variation in the IDUA gene, which contains the instructions for the production of a specific enzyme known as alpha-L-iduronidase. This specialized protein is normally found in the lysosomes of cells, where it helps to break down complex sugars called glycosaminoglycans (GAGs).
Can Hurler syndrome be cured?
There is no cure but treatments such as bone marrow transplantation and/or enzyme replacement therapy (ERT) can help make MPS I a more manageable disease.
What are mucopolysaccharides made of?
Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are negatively-charged polysaccharide compounds. They are composed of repeating disaccharide units that are present in every mammalian tissue. [1] Their functions within the body are widespread and determined by their molecular structure.
Does hurler only affect men?
The incidence of Hurler syndrome is approximately 1 in 100,000 births. [1] Male and female children are equally affected. All races and ethnicities are at risk of inheriting the disease.
