Hurler syndrome is also known as MPS or mucopolysaccharidosis. In this disease, mucopolysaccharides (long chained sugar molecules) cannot be broken up by the affected individual, resulting in severe abnormality both in physical and mental status. Hurler syndrome is inherited by birth and initial symptoms begin to appear during 2-5 years. MPS is caused due to lack of particular enzyme by name Aldurazyme which is responsible for breaking up of certain molecules. Parents would pass on the disorder to the offspring. Treatment of Hurler syndrome is by injecting the enzyme and controlling the symptoms. In severe form, MPS III and IV are known to exist.
Causes :
An enzyme called (Aldurazyme) or lysosomal alpha L iduronidase is not present in children born with Hurler syndrome. Break down of sugar molecules or glycsaminoglycans is not possible in such children causing damage to many organs including brain and heart. These molecules gradually start building up in the body causing more and more damage.
Hurler Syndrome Symptoms :
Symptoms of Hurler syndrome are not the same for all children. It may vary from mild to very severe. Parents of affected children carry the defective gene which is passed on to their children through chromosomes. Initial symptoms can be observed in the ages of 2-5 years. Facial symptoms of abnormality can be seen within first 2 years of birth.