BioScience Dictionary

 
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Found Scheie s Syndrome 1 time.

Displaying results 1 to 10.

1. Scheie s Syndrome (mucopolysaccharidosis type 1 S, MPS-IS, MPS disorder I S)
A hereditary metabolic disorder caused by a recessive gene which results in a deficiency of the enzyme alpha-L-iduronidase, which breaks down dermatan sulphate and heparan sulphate, two types of mucopolysaccharides (complex carbohydrate s). Consequently, the mucopolysaccharides accumulate in the cell s of the body and cause damage. Symptoms include skeletal deformities, mental retardation, coronary artery disease, deafness, and stiff joints, among other things. There are mild and severe forms of the syndrome; the severe form is called Hurler Syndrome , the mild form is called Scheie Syndrome, and children with an intermediate form have Hurler-Scheie Syndrome. Patients with the mild form generally suffer little to no mental retardation and survive to adulthood. There is presently no cure. Scheie s Syndrome is one of a number of related rare genetic mucopolysaccharide disorders, the most common being Hunter s Syndrome .