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    Scheie syndrome

    Mucopolysaccharidosis type I S; MPS I S

    Scheie syndrome is metabolism disease passed down through families 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.

    See also:

    • MPS I H (Hurler syndrome)
    • MPS II, Hunter syndrome
    • MPS IV Morquio syndrome
    • MPS III (Sanfilippo syndrome)

    Causes

    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. If both parents carry the defective gene related to this condition, each of their children has a 25% chance of developing the disease.

    Symptoms

    Symptoms may not appear until age 4 or 5, and may include:

    • Broad mouth with full lips
    • Claw hands and deformed feet
    • Cloudy cornea and progressive loss of vision, resulting in blindness
    • Coarsened facial features
    • Increased body hair (hirsutism)
    • Prognathism
    • Stiff joints

    Exams and Tests

    A physical exam may show signs of:

    • Aortic regurgitation
    • Hearing loss
    • Hernias -- inguinal hernia, umbilical hernia
    • Liver swelling
    • Prognathism

    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:

    • Blood culture
    • Culture of skin fibroblasts
    • Echocardiogram
    • X-ray of the skeleton

    Treatment

    Enzyme replacement therapy for patients with a defect in the enzyme a-L-iduronidase (lauonidase) 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

    The National MPS Society -- www.mpssociety.org

    Outlook (Prognosis)

    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.

    • Compression of the spinal cord, which can lead to loss of nerve function
    • Extremity deformities
    • Hearing loss and deafness
    • Problems with the aortic valve
    • Vision problems

    When to Contact a Medical Professional

    Call your health care provider if you have symptoms of this disorder.

    Prevention

    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. Prenatal testing is available.

    References

    Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2012:chap 40.

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                Review Date: 5/7/2013

                Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

                The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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