mucopolysaccharidosis IH


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mucopolysaccharidosis IH

Hurler's disease An AR condition characterized by lysosomal alpha-l-iduronidase deficiency, with accumulation of mucopolysaccharides in the heart and other tissues Clinical Infants develop signs by the first yr of life, with characteristic facies–coarse thick features, prominent dark eyebrows, cloudy corneas, progressive stiffness, mental retardation, death in early teens, often from associated heart disease
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

mucopolysaccharidosis IH

Mucopolysaccharidosis due to a deficiency of the enzyme a-l-iduronidase with accumulation of dermatan sulfate and heparan sulfate. Clinically, there are lens opacities, coarse facies, skeletal dysplasia, hepatosplenomegaly, and mental retardation. Synonym: Hurler's syndrome
Medical Dictionary, © 2009 Farlex and Partners
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