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Scheie syndrome
Sunday, 15 August 2004
Sunday, 15 August 2004

What

Scheie Syndrome is a genetic disorder caused by a missing or poorly functioning enzyme named α-L-iduronidase. This enzyme is located in small sacs called lysosomes. Lysosomes are the part of a cell that has the important function of breaking down old proteins and carbohydrates. Because there is a lack of α-L-iduronidase in Scheie Syndrome, certain molecules named glycosaminoglycans begin to build up. This build-up of material causes progressive damage to virtually every cell of the body. Scheie Syndrome is a mild form of Hurler Syndrome; both syndromes have deficiencies in the same enzyme. Scheie Syndrome is the mildest form of a group of disorders named mucopolysaccharide storage diseases.

Who

Scheie Syndrome is a very rare disorder that affects males and females in equal numbers. It is estimated that this disorder occurs in 1 out of every 500,000 people and seems to affect people of all ethnic groups.

Signs and Symptoms

The first signs and symptoms of Scheie Syndrome usually first appear between the ages of four to five years. Children usually present with stiff joints and distinct facial features. Children may also have hernias, a broad mouth with full lips, a cloudy cornea (part of the eye), and abnormal feet and hands. Other common signs and symptoms of this syndrome include: 1. family history of Scheie syndrome 2. coarseness of facial features 3. stiffness in some joints 4. deformed hands and feets 5. increased body hair 6. broad mouth with full lips 7. cloudy cornea (part of eye) and progressive loss of vision 8. extended chin 9. heart murmurs/aortic valve disease 10. normal intelligence, stature and life span (most other mucopolysaccharide storage diseases have abnormalities in these items)

Possible Causes

The enzyme involved with this disorder, alpha-L-iduronidase, normally digests mucopolysaccharides (a type of complex carbohydrate). When there is a deficiency of this enzyme there is an accumulation of the polysaccharides named dermatan sulfate and heparan sulfate in many places including the connective tissue and the skeletal system. This accumulation is toxic to cells and can cause them to malfunction and/or die. When these cells are damaged, the symptoms of Scheie Syndrome occur. The gene that causes Scheie Syndrome has been identified and is inherited in an autosomal recessive manner. Every person is born with two copies of a gene, one inherited from each parent. In order to have Scheie Syndrome, a child must inherit two copies of this gene with a change (mutation). If a child only has one copy of the gene with a change, then he/she will not be affected, but is called a carrier. If both parents have one copy of the gene with a change (both parents are carriers), then there is a 25% chance that each of their children will have Scheie Syndrome, a 50% chance that the child will be a carrier, and a 25% chance that the child will have no copies with a change.

Diagnosis

Children with Scheie Syndrome usually first present with bone stiffness and/or bone deformities. Scheie Syndrome is diagnosed by physical examination, x-rays and laboratory tests. When Scheie Syndrome is suspected, dermatan sulfate and heparan sulfate can be measured in the urine. A biopsy of the skin can be taken and examined for special skin cells called fibroblasts and a sample of blood for examination of white blood cells helps with the diagnosis. Examination of these specimens will reveal a lack of activity of alpha-L-iduronidase in these cells which is evidence in support of the diagnosis of Scheie Syndrome. X-rays may also be taken to evaluate for bone changes associated with this disorder.

Treatment

There is currently no cure for this disorder and treatment for Scheie Syndrome involves management of symptoms. A new treatment with the replacement of the deficient enzyme (medication called laronidase) has been shown to be beneficial. This therapy seems to help improve normal lysosome function which results in many positive benefits like improved joint mobility, growth and heart function. Not many side effects have been noted, but there has been no evidence of increased life span. Other treatments for Scheie Syndrome include surgery to correct bone deformities and vision problems. Scheie Syndrome treatments are usually based specifically on the patient’s needs. There is also ongoing research on the use of gene therapy to treat patients of this disease.

Prognosis

Scheie Syndrome can have many serious complications including cardiac and skeletal problems, but the disease can be quite variable and some children are only mildly affected. It is possible for a child with this disease to live a normal life with minimal complications. Sometimes certain complications (for example, limitation of movements of joints and vision and hearing problems) can occur later in life and will need appropriate treatment. Ultimately, Scheie Syndrome has the best prognosis of all the mucopolysaccharide storage diseases.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc
A great site with detailed information about the disease, treatment options, support groups, and ongoing clinical research. Website also provides a comprehensive list of world wide resources for information on Scheie Syndrome.

The Canadian Society for MPS and related diseases
Organization whose purpose is to provide information and support to individuals and their families afflicted with a Mucopolysaccharide (MPS) disease, increase public awareness of MPS diseases, and raise funds to further research into MPS and related diseases.

Lysosomal Storage Disease Network
Great website the provides information, resources, and services to physicians and patients alike in their efforts to cope with Scheie Syndrome.

CLIMB (Children Living with Inherited Metabolic Diseases)
UK Organization dedicated to fighting metabolic diseases through research, awareness and support. This organization provides advice, information and support on all metabolic diseases to children, young adults, and families.

Google Search for Scheie syndrome

References and Sources

Emedicine.com: Mucopolysaccharidoses IS (Scheie Syndrome) www.emedicine.com/ped/topic2052.htm MedlinePlus: Scheie Syndrome www.nlm.nih.gov/medlineplus/ency/article/001246.htm OMIM: Scheie Syndrome www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607016 National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc . www.mpssociety.org/mps1.html