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Hurler syndrome

an autosomal recessive disease marked by mucopolysaccharide levels in tissues more than 10 times normal (see mucopolysaccharidosis), combined with elevated levels of polysaccharides and gargoylism. Mental development begins normally but slows after the early months and reaches a plateau around 2 years of age. The child may learn a few words but not sentences, and toilet training is seldom achieved. Also called Pfaundler–Hurler syndrome; mucopolysaccharidosis Type I. [Gertrud Hurler (1889–1965), Austrian pediatrician]

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November 24th 2024