Scheie Syndrome

Below you will find more information about Scheie Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Scheie Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Scheie Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Scheie Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Scheie syndrome is the mildest form of MPS I, the most frequently occurring type of Mucopolysaccharidosis, or a group of hereditary metabolic diseases that result from the malfunctioning or absence of lysosomal enzymes necessary for breaking down long chains of sugar carbohydrates known as glycosaminoglycans.


Scheie syndrome (or MPS in general) can be diagnosed clinically with physical examination coupled with urine tests to screen for excretion of excess mucopolysaccharides in the urine. Enzyme assays can also be done to confirm the diagnosis. To verify if a fetus carries the defective gene, chorionic villus sampling and amniocentesis can be done for a prenatal diagnosis. For parents with a family history of the disease, genetic counseling may also help.


To date, there is no known cure for Scheie syndrome or any of the mucopolysaccharidosis disorders. Treatment is generally geared towards alleviating the systemic symptoms as well as improving the affected patient's quality of life. Physical therapy along with daily exercise is often recommended to improve mobility as well as delay the onset of joint problems. Currently, enzyme replacement is being tested as a treatment option.

Symptoms and Signs

In general, all types of mucopolysaccharidosis can lead to permanent and progressive cellular damage that impairs the physical abilities, appearance, organ/system functioning, and mental development of affected individuals. Scheie syndrome, also known as MPS I S, typically manifests at age 5, but most commonly diagnosed after the 10th year of life. Children with Scheie syndrome have normal intelligence with some mild learning disabilities. In some cases, psychiatric problems may occur. Vision may be significantly impaired due to retinal degeneration, glaucoma, and clouded corneas. Other symptoms of Scheie syndrome include joint stiffness, carpal tunnel syndrome (or some other form of nerve compression), deformities in the hands and feet, a short neck, and aortic valve disease. Obstructive airway disease and sleep apnea have also been known to occur. Individuals with Scheie syndrome can survive well into adulthood.


Scheie syndrome is a hereditary disorder with an autosomal recessive pattern. The disease develops as a consequence of the malfunction or absence of certain lysosomal enzymes necessary to break down glycosaminoglycans, or long chains of sugar that help in the development of bone, cartilage, tendons, skin, cornea, and connective tissue. As a result of the absence/malfunctioning of relevant enzymes, high amounts of glycosaminoglycans abnormally accumulate in the blood, cells, and connective tissues, leading to permanent and progressive cellular damage.

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