Hurler's disease


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 Hunter syndrome.

Dictionary of molecular biology. 2004.

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

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

  • 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-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

  • Hurler — Gertrud, Austrian pediatrician, 1889–1965. See H. disease, H. syndrome, Pfaundler H. syndrome …   Medical dictionary

  • Hurler disease — see under syndrome …   Medical dictionary


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