Hurler's syndrome

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• Hurler–Scheie syndrome — (also known as Mucopolysaccharidosis type I H S ) is a cutaneous condition, also characterized by mild mental retardation and corneal clouding.[1] See also Scheie syndrome List of cutaneous conditions References ^ Rapini, Ronald P.; Bolognia,… …   Wikipedia

• 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… …   Medical dictionary

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

• Hurler-Scheie syndrome — Although clinically distinct diseases, fibroblasts from patients with Hurler s and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same …   Dictionary of molecular biology

• 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