- 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 diseaseHur·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.
* * *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 — (also known as Mucopolysaccharidosis type I H S ) is a cutaneous condition, also characterized by mild mental retardation and corneal clouding. See also Scheie syndrome List of cutaneous conditions References ^ Rapini, Ronald P.; Bolognia,… … Wikipedia
Hurler-Scheie syndrome — Hur·ler Scheie syndrome (hurґlər shaґ) [G. Hurler; Harold G. Scheie, American ophthalmologist, 1909â€“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
Синдром Гурлера (Hurler'S Syndrome) — наследственное заболевание, возникающее в результате дефицита фермента, приводящего к накоплению белково углеводных комплексов и жиров в клетках организма. (По другому это заболевание также называется множественным дизостозом или… … Медицинские термины
Hurler syndrome — Classification and external resources ICD 10 E76.0 ICD 9 277.5 … Wikipedia