About Hurler Syndrome
What is Hurler Syndrome?
The information provided here is our understanding of Hurler Syndrome. For more information, contact the MPS Society at: www.mpssociety.org
Hurler Syndrome is one of a number of genetic "storage" disorders, also known as mucopolysaccharidosis 1, or MPS1-H. One out of 100,000 children are affected with this rare inborn error of metabolism. Children with Hurler Syndrome are born without an enzyme called alpha l-iduronidaise. This enzyme's sole purpose is to break down a particular sugar in the body. Because they are not broken down, the sugars (called GAGS) accumulate in the body around the heart, brain, vital organs, bones, and muscles. This increased accumulation, in time, leaves the child with various physical and neurological disabilities as well as severe mental impairment, loss of hearing, and potential blindness. Sadly, if left untreated, the life expectancy of a child with MPS1-H is only 5-10 years. Physical characteristics of Hurler children may include larger foreheads, droopy eyes, slightly turned-up noses, clouded corneas, small, chubby hands and feet, and a gibbus, or curve, in the lower back. They often experience repeated ear infections or have chronic runny noses. Some children with Hurler breathe loudly or snore when sleeping.
The information provided here is our understanding of Hurler Syndrome. For more information, contact the MPS Society at: www.mpssociety.org
Hurler Syndrome is one of a number of genetic "storage" disorders, also known as mucopolysaccharidosis 1, or MPS1-H. One out of 100,000 children are affected with this rare inborn error of metabolism. Children with Hurler Syndrome are born without an enzyme called alpha l-iduronidaise. This enzyme's sole purpose is to break down a particular sugar in the body. Because they are not broken down, the sugars (called GAGS) accumulate in the body around the heart, brain, vital organs, bones, and muscles. This increased accumulation, in time, leaves the child with various physical and neurological disabilities as well as severe mental impairment, loss of hearing, and potential blindness. Sadly, if left untreated, the life expectancy of a child with MPS1-H is only 5-10 years. Physical characteristics of Hurler children may include larger foreheads, droopy eyes, slightly turned-up noses, clouded corneas, small, chubby hands and feet, and a gibbus, or curve, in the lower back. They often experience repeated ear infections or have chronic runny noses. Some children with Hurler breathe loudly or snore when sleeping.
There is no cure for Hurler Syndrome. Although not a curative, a cord blood or bone marrow transplant is globally recognized as the closest thing to a cure to date. If a child undergoes a successful transplant, most aspects of the disease are halted. However, proof of stabilizing the disease in the bones still remains to be seen. The oldest Hurler survivor of a bone marrow transplant is in his early twenties. It has been noted that the younger a child is when transplanted, their long-term prognosis will be better.
In 2003, the FDA approved the use of Aldurazyme, a synthetic enzyme replacement for alpha l-iduronidaise. Enzyme replacement therapy (ERT) offers much hope to children whose MPS1-H diagnosis comes too late in the progression of the disease to be eligible for transplant. The synthetic enzyme helps slow the symptoms in many areas, but much research remains to seek ways in which Aldurazyme can cross over the "blood/ brain barrier". Because it cannot do this, ERT does not yet help the neurological regression in children with MPS1-H. Studies are beginning to get underway in the US to test the effects of ERT prior to transplant in children who are still at an eligible age for BMT/CBT. There is some thought that ERT may be beneficial to bone developmment, but there has been very little research to date in this area. The gold standard for treating eligible kids with MPS1-H remains a transplant.
In 2003, the FDA approved the use of Aldurazyme, a synthetic enzyme replacement for alpha l-iduronidaise. Enzyme replacement therapy (ERT) offers much hope to children whose MPS1-H diagnosis comes too late in the progression of the disease to be eligible for transplant. The synthetic enzyme helps slow the symptoms in many areas, but much research remains to seek ways in which Aldurazyme can cross over the "blood/ brain barrier". Because it cannot do this, ERT does not yet help the neurological regression in children with MPS1-H. Studies are beginning to get underway in the US to test the effects of ERT prior to transplant in children who are still at an eligible age for BMT/CBT. There is some thought that ERT may be beneficial to bone developmment, but there has been very little research to date in this area. The gold standard for treating eligible kids with MPS1-H remains a transplant.