(Science: syndrome) a hereditary metabolic disorder, also designated mucopolysaccharidosis i, is 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 carbohydrates). Consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage.
there are mild and severe forms of the syndrome, the mild form is called Scheie syndrome, the severe form is called hurler syndrome, and children with an intermediate form have hurler-scheie syndrome. Patients with the severe form usually die from respiratory and cardiac failure before the age of ten. There is presently no cure.
of dermatan sulfate and heparan sulfate in urine, and deficient alpha-L-iduronidase activity in fibroblasts, amniocytes or other cell types.
Inheritance: autosomal recessive.
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