Scheie syndrome
Alternative Names: 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 of Scheie syndrome
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.
Scheie syndrome 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
Tests and Exams
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 of Scheie syndrome
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
The National MPS Society -- www.mpssociety.org
Prognosis (Outlook)
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.
Potential Complications
- 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 Health Professional
Call your health care provider if you have symptoms of this disorder.
Prevention of Scheie syndrome
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.
Learn more about Scheie syndrome
Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.
Copyright 2011 A.D.A.M., Inc.
