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Hurler syndrome is an inherited disorder, which means that the disease is caused by faulty genes passed on from parents to children. Genes carry a set of instructions that tell the body how to work properly.

In Hurler syndrome, the body has a defective gene and cannot make an important enzyme. Enzymes are proteins inside cells that break down larger building block chemicals into smaller ones. When the body is missing a certain type of enzyme, the cells can't work properly. In Hurler syndrome, the body is missing an enzyme that breaks down large molecules called glycosaminoglycans (GAG).

These molecules help the body build bones and tissue. In patients with Hurler syndrome, the body cannot break down these large molecules. As a result, the GAG molecules build up and damage organs and tissues.

Hurler syndrome occurs on average in about 1 out of every 100,000 babies born, although it is more common in some parts of the world than in others. Children with Hurler syndrome have many physical and mental problems. If the damage is not stopped, children born with Hurler syndrome usually die by 5 to 10 years of age.

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1Aldenhoven M, Boelens JJ, de Koning TJ. The clinical outcome of hurler syndrome after stem cell transplantation. Biol Blood Marrow Transplant. 2008; 14(5): 485-498.

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