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

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 syndromeSee also: mucopolysaccharidosis

单词	mucopolysaccharidosis ih
释义	DictionarySeemucopolysaccharidosis mucopolysaccharidosis IH 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 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 syndromeSee also: mucopolysaccharidosis
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