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Disease Information for Hurler's mucopolysaccharidosis syndrome: Definition

Mucopolysaccharidosis Type I; Gargoylism; Hurler Disease; MPS Disorder I; MPS I; Subdivisions: Hurler Syndrome; (MPS IH); Hurler-Scheie Syndrome (MPS IH/S); Scheie Syndrome (MPS IS); Mucopolysaccharidoses (MPS disorders) are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules; The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities; Mucopolysaccharidosis type I (MPS I) is a form of MPS caused by a deficiency of the enzyme alpha-L-iduronidase; The most severe form of MPS I is often called Hurler syndrome (or MPS IH); It is named for the physician, Gertrud Hurler, who first described the disorder in 1919; A milder form of MPS I is called Scheie syndrome (or MPS IS), and the name Hurler-Scheie (MPS IH/S) is sometimes applied to an intermediate form that does not fit clearly in either the milder or more severe category; -----------[NORD]------------------

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