Skip navigation
MedlinePlus Trusted Health Information for You U.S. National Library of MedicineNational Institutes of Health
Contact Us FAQs Site Map About MedlinePlus
español Home Health Topics Drugs & Supplements Medical Encyclopedia Dictionary News Directories Other Resources

 

Medical Encyclopedia

Other encyclopedia topics:  A-Ag  Ah-Ap  Aq-Az  B-Bk  Bl-Bz  C-Cg  Ch-Co  Cp-Cz  D-Di  Dj-Dz  E-Ep  Eq-Ez  F  G  H-Hf  Hg-Hz  I-In  Io-Iz  J  K  L-Ln  Lo-Lz  M-Mf  Mg-Mz  N  O  P-Pl  Pm-Pz  Q  R  S-Sh  Si-Sp  Sq-Sz  T-Tn  To-Tz  U  V  W  X  Y  Z  0-9 

Scheie syndrome

Printer-friendly versionEmail this page to a friend
Contents of this page:

Alternative Names   

Mucopolysaccharidosis 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.

See also:

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 and 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 syndrome is transmitted as an autosomal recessive trait.

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 a family history of this disease or if you have symptoms suggestive of this disorder.

Prevention    Return to top

Genetic counseling is recommended for prospective parents with a family history of Scheie syndrome.

Update Date: 7/1/2007

Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

A.D.A.M. Logo

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2008, A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.