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Alternative NamesMucopolysaccharidosis type I S; MPS I S
Definition Return to top
Scheie syndrome is an inherited disease of metabolism in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).
The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS I S.
Causes Return to top
Persons with Scheie syndrome are missing a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.
Without the enzyme, glycosaminoglycans build up. This excess material is stored in body tissues and can damage organs, including the heart. Symptoms can range from mild to severe.
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is transmitted as an autosomal recessive trait. That means that both parents must pass along the defective gene for the offspring to have the disease.
Symptoms Return to top
Symptoms may not appear until age 4 or 5, and may include:
Exams and Tests Return to top
A physical exam may show signs of:
An eye exam will show cloudy corneas and retinal pigmentation.
Urine tests will be done. Persons with Scheie syndrome have increased amounts of dermatan and heparan sulfate in their urine. See: Urine dermatan sulfate
Other tests may include:
Treatment Return to top
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.
Early recognition and treatment of spinal cord compression can prevent permanent nerve damage. Treatment is also given for heart problems caused by leaky valves.
Support Groups Return to top
The National MPS Society -- www.mpssociety.org
Outlook (Prognosis) Return to top
Scheie syndrome is compatible with an almost normal lifespan. However, some disabilities such as limitation of joints, blindness, or deafness are likely to occur later in life.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
Call your health care provider if you have symptoms of this disorder.
Prevention Return to top
Genetic counseling is recommended for prospective parents with a family history of Scheie syndrome. Counseling is also recommended for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments.Update Date: 5/11/2009 Updated by: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the American Board of Genetic Counseling, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.