Hurler S yndrome is a rare genetic disorder caused by the absence of lysosomal alpha-L-Hurler S yndrome is a rare genetic disorder caused by the absence of lysosomal alpha-L-iduronidase, an enzyme found in lysosomes that breaks down complex sugars called iduronidase, an enzyme found in lysosomes that breaks down complex sugars called mucopolysaccharides or glycosaminglycans (GAGs). This causes the buildup of these sugars in mucopolysaccharides or glycosaminglycans (GAGs). This causes the buildup of these sugars in the lysosome producing severe symptoms and, most likely, death. the lysosome producing severe symptoms and, most likely, death.

Categorized as a lysosomal storage diseaseCategorized as a lysosomal storage disease Also recognized as Hurler’s disease, mucopolysaccharidosis type 1 (MPS 1), and gargoylismAlso recognized as Hurler’s disease, mucopolysaccharidosis type 1 (MPS 1), and gargoylism

S ymptoms usually occur between ages three and eight, but during the first two years, a change S ymptoms usually occur between ages three and eight, but during the first two years, a change in facial features may become apparent.in facial features may become apparent.

S ymptoms include:S ymptoms include:• Abnormalities in facial featuresAbnormalities in facial features• Clawed handsClawed hands• DeafnessDeafness• Cloudy corneasCloudy corneas• Progressive mental retardationProgressive mental retardation• Joint diseaseJoint disease• Heart value problemsHeart value problems• Abnormal spine bonesAbnormal spine bones• Haltered growthHaltered growth The prognosis of Hurler syndrome is severe with the slim chance of surviving past the age of The prognosis of Hurler syndrome is severe with the slim chance of surviving past the age of

ten due to organ damage.ten due to organ damage.

S idney Van Hook, a three year old toddler, S idney Van Hook, a three year old toddler, was born with the devastating was born with the devastating hereditary disease Hurler syndrome. hereditary disease Hurler syndrome. Luckily, her parents, S teve and Tosha Luckily, her parents, S teve and Tosha Roberts, made the decision to give her a Roberts, made the decision to give her a bone marrow transplant, one of the treatments to suppress the disease’s symptoms. Even though bone marrow transplant, one of the treatments to suppress the disease’s symptoms. Even though

the transplant was a success and the needed enzymes are being replenished, some symptoms the transplant was a success and the needed enzymes are being replenished, some symptoms are evident, including the curvature of the spine and delays in speech. With time and therapy, are evident, including the curvature of the spine and delays in speech. With time and therapy, they believe these symptoms will improve. S idney’s chances of survival are improving, but they believe these symptoms will improve. S idney’s chances of survival are improving, but they are not defiant. they are not defiant.

Genzyme, one of the leading biotechnology Genzyme, one of the leading biotechnology companies, was able to formulate a new companies, was able to formulate a new medication called A ldurazyme.medication called A ldurazyme. Aldurazyme (laronidase) replaces the A ldurazyme (laronidase) replaces the enzyme alpha-L-iduronidase needed to stopenzyme alpha-L-iduronidase needed to stop the buildup of GAGs that cause Hurler the buildup of GAGs that cause Hurler S yndrome.S yndrome. B one marrow transplants are another B one marrow transplants are another procedure that has the possibility to better the symptoms of Hurler syndrome.procedure that has the possibility to better the symptoms of Hurler syndrome. Other treatments depend on the organs affected. Other treatments depend on the organs affected.

As of now, possibilities for future improvements are bone marrow transplants and gene therapy.As of now, possibilities for future improvements are bone marrow transplants and gene therapy. B one marrow transplants insert the enzyme needed to break down mucopolysacharides in a B one marrow transplants insert the enzyme needed to break down mucopolysacharides in a

lysosome.lysosome. Gene therapy is the insertion of genes in a cell to treat cellular diseases.Gene therapy is the insertion of genes in a cell to treat cellular diseases.