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Definition of Mucopolysaccharidosis type I

Mucopolysaccharidosis type I: Hurler syndrome, Scheie syndrome, and Hurler-Scheie syndrome. All three of these rare metabolic syndromes are due to varying degrees of deficiency of the enzyme alpha-L-iduronidase, which helps break down long chains of sugar molecules called glycosaminoglycans. Without this enzyme, glycosaminoglycans build up and damage organs, including the heart. Hurler syndrome is inherited in an autosomal recessive pattern. Symptoms can range from mild to severe and usually appear between ages 3 to 8. Symptoms include heart valve problems, skeletal deformities, growth delay, joint disease, intellectual disability, and abnormal facial features.

See also: Mucopolysaccharidosis.


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Reviewed on 12/21/2018
Banikazemi, M., MD. "Genetics of Mucopolysaccharidosis Type I." Medscape. Updated: Oct 13, 2014.
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