Definition:
Scheie Syndrome/MPS I is caused by a mutated gene that manufactures the enzyme alpha-L-iduronidase. This enzyme, which is needed to break down sugars known as glycosaminoglycans or GAGs, is either produced in very low amounts or is completely absent in individuals affected with this disorder. These sugars are used to build tissues, cartilage, skin, tendons, and a joint fluid in the body. Individuals affected with Scheie Syndrome/MPS I have too much GAG in their system. An excessive amount of GAGs result in the clinical symptoms of Scheie Syndrome/MPS I.

Scheie syndrome is the mildest form of the MPS I disorders. Individuals affected with this disorder typically have normal intelligence and milder forms of the physical symptoms associated with MPS I disease. Scheie syndrome is estimated to affect one in 500,000 individuals worldwide.

Symptoms:
The symptoms of Scheie Syndrome/MPS I appear between the ages of three and eight. Some of the hallmark symptoms may include stiff joints, skeletal abnormalities, clouding of the cornea, hearing loss, an enlarged liver and/or spleen, and coarse facial features. Other symptoms can include carpal tunnel syndrome, heart disease, upper respiratory infections, hernias, and lung disease.

In contrast to Hurler syndrome, where individuals don’t grow beyond four feet in height, those with Scheie Syndrome/MPS I grow to a normal height.

Inheritance Pattern:
Scheie/MPS I is an autosomal recessive disorder.

Diagnosis and Testing:
A urine test is used to diagnose Scheie/MPSI, by measuring increased levels of glycosaminoglycans (GAGs), the type of sugar chain in the lysosome that accumulates as a result of the malfunctioning enzyme. A urine test is routinely followed by a blood test or skin biopsy, which will reveal reduced activity of the enzyme alpha-L-iduronidase. Prenatal screening is available to examine alpha-L-iduronidase activity in the fetus. Genetic testing is also available in combination with these diagnostic tests to look for the mutation that causes Hurler-Scheie/MPS I.

Life Expectancy:
A normal life expectancy is associated with Scheie/MPS I.

Treatment:
Treatment for Scheie/MPS I includes reducing some of the symptoms associated with this disorder as well as treating its cause. There are many, various treatments aimed at reducing or controlling the symptoms of this disorder. For instance, supplemental oxygen or a tracheostomy may assist with breathing complications. Physical therapy can alleviate muscle and joint stiffness associated with this disorder. Surgery may also be necessary for a hernia, spinal cord compression, carpel tunnel syndrome, and/or heart valve replacement.

Enzyme replacement therapy has been utilized to help reduce symptoms of this disorder by supplementing or replacing the absent or deficient enzyme. Bone marrow or stem cell transplantation may also be an option for individuals with Scheie/MPS I.

Patient Groups:
National MPS Society
4220 NC Highway 55, Suite 140
Durham NC, 27713
www.mpssociety.org
tel: (919) 806-0101
fax: (919) 806-2005
Barbara Wedehase, Executive Director
info@mpssociety.org