Scheie syndrome

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Mucopolysaccharidosis type I; Mucopolysaccharidosis type IS

Enzyme replacement therapy for patients with a defect in the enzyme a-L-iduronidase is now possible. This includes individuals with Scheie syndrome, but also Hurler and Hurler-Scheie syndromes.

One study examined the effects of this intravenous enzyme replacement in a group of individuals with Hurler syndrome and Scheie syndrome. Many positive benefits were seen, including improved joint mobility, growth (in children) and heart function. Few side effects were reported and the patients tolerated the medication well. How the enzyme replacement affects long-term neurologic function or life-span is still unknown.

Early recognition and treatment of spinal cord compression can prevent permanent nerve damage. Treatment for heart problems caused by leaky valves is the same as in mainstream medicine.

The National MPS Society --www.mpssociety.org

Scheie syndrome is compatible with an almost normal lifespan. However, some disabilities such as limitation of joints, blindness or deafness are likely in later decades.

• Visual impairment from corneal clouding
• Hearing loss and deafness
• Extremity deformities
• Compression of the spinal cord can lead to loss of nerve function

Call your health care provider if you have a family history of this disease or if you have symptoms suggestive of this disorder.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.