Hurler's syndrome

Hurler's syndrome
Hur·ler's syndrome 'hər-lərz-, 'hu̇r- or Hur·ler syndrome 'hər-lər-, 'hu̇r- n a mucopolysaccharidosis that is inherited as an autosomal recessive trait and is characterized by deformities of the skeleton and features, hepatosplenomegaly, restricted joint flexibility, clouding of the cornea, mental retardation, and deafness called also Hurler's disease
Hur·ler 'hu̇r-lər Gertrud (1889-1965)
German pediatrician. Hurler published a detailed description of one of the mucopolysaccharidoses in 1919. This hereditary disorder is now also known as Hurler's syndrome, in her honor.

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a hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein-carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis). This leads to severe mental retardation, enlargement of the liver and spleen, heart defects, deformities of the bones, and coarsening and thickening of facial features (gargoylism). A bone marrow transplant offers the only hope of treatment. Medical name: mucopolysaccharidosis type I.
G. Hurler (1889-1965), Austrian paediatrician

Medical dictionary. 2011.

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  • Hurler-Scheie syndrome — Hur·ler Scheie syndrome (hurґlər shaґ) [G. Hurler; Harold G. Scheie, American ophthalmologist, 1909–1990] see under syndrome …   Medical dictionary

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  • Hurler-Scheie syndrome — one of the three allelic disorders of mucopolysaccharidosis I, with clinical features intermediate between the Hurler and the Scheie syndromes, caused by deficiency of L iduronidase, and specifically characterized by receding chin (micrognathism) …   Medical dictionary

  • Hurler's syndrome — [ hə:ləz] noun Medicine a defect in metabolism arising from congenital absence of an enzyme, resulting in mental retardation, a protruding abdomen, and an abnormally large head. Origin 1930s: named after the Austrian paediatrician Gertrud Hurler …   English new terms dictionary

  • Hurler's syndrome — a hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis). This leads to severe mental retardation, enlargement of the… …   The new mediacal dictionary

  • Hurler's syndrome — n. Med. a defect in metabolism resulting in mental retardation, a protruding abdomen, and deformities of the bones, including an abnormally large head. Also called GARGOYLISM. Etymology: G. Hurler, Ger. paediatrician …   Useful english dictionary

  • Hurler's syndrome — ▪ pathology also called  Gargoylism, or Mucopolysaccharidosis I,         one of several rare genetic disorders involving a defect in the metabolism of mucopolysaccharides, the class of polysaccharides that bind water to unite cells and to… …   Universalium

  • Hurler syndrome — Classification and external resources ICD 10 E76.0 ICD 9 277.5 …   Wikipedia

  • Hurler syndrome — An inherited error of metabolism in which there is deficiency of the enzyme alpha L iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of… …   Medical dictionary

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