Hurler syndrome (disease)

Hur·ler syndrome (disease) (hurґlər) [Gertrud Hurler, Austrian pediatrician, 1889–1965] see under syndrome.

Medical dictionary. 2011.

Look at other dictionaries:

  • Hurler's disease — noun hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation • Syn: ↑Hurler s syndrome,… …   Useful english dictionary

  • Hurler's disease — Autosomal mucopolysaccharidosis recessive storage disease in which a iduronidase is absent, leading to accumulation of heparan and dermatan sulphates. Extensive deposits of mucopolysaccharide are found in gargoyle cells, and in neurons. See… …   Dictionary of molecular biology

  • 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

  • Syndrome, Hurler — 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

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • 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

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • 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 — ▪ 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

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