Most metabolic storage disorders stem from a key digestive enzyme missing from a patient’s immune system. Hurler syndrome, medically known as mucopolysaccharidosis I (MPS I)p, is caused by just that.
Patients with Hurler’s syndrome, an inherited metabolic storage disorder, lack an enzyme that is responsible for the breakdown of complex sugars in the body. While some of these sugars are necessary for the production of healthy bones and tissues, in excess they can cause damage to vital organs.
Symptoms of Hurler’s begin to develop around age three, although facial abnormalities begin to appear before age 2. Specifically, symptoms include deafness, stunted growth, heart valve abnormalities, abnormally shaped bones in the spine, and advancing mental retardation.
Tests are available that detect the presence of Hurler’s syndrome. EKGs (electrocardiograph) can detect irregularities around the heart, genetic testing detects the alpha-L-iduronidase (IDUA) gene, X-rays show spine deformations and urine tests can expose high levels of complex sugars.
While the prognosis for patients with Hurler syndrome is poor, treatment options do exist that can improve the quality of life for those diagnosed with the disease. Bone marrow transplants have been used in many cases, and while the procedure has had mixed results, it does help to generate healthy amounts of the enzyme needed to breakdown the complex sugars. Enzyme replacement therapy has also been proven to add a working form of the missing enzyme to the body.
Sources:
MedlinePlus: http://www.nlm.nih.gov/medlineplus/ency/article/001204.htm
National Marrow Donor Program: http://bethematch.org/For-Patients-and-Families/Learning-about-your-disease/Hurler-syndrome/
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