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 mucopolysaccharides in the tissues of the body. There are 2 clinical subtypes of disease due to deficiency of alpha-L-iduronidase: Hurler syndrome and Scheie syndrome. Hurler syndrome patients have progressive mental degeneration, gross facial features, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly (enlargement of the liver and spleen), valvular heart defects, thick skin, joint contractures, and hernias. Scheie syndrome patients have stiff joints, clouding of the cornea, aortic regurgitation (reflux through the aortic valve in the heart), and survival to a late age with little if any impairment of intellect. There is a disease of intermediate severity due to the presence of one Hurler mutation and one Scheie mutation. The disease is termed Hurler-Scheie syndrome. Hurler syndrome and Scheie syndrome are inherited in an autosomal recessive manner. The gene encoding alpha-L-iduronidase is on chromosome 4 (in band 4p16.3). Bone marrow transplantation may slow the progression of Hurler syndrome, but it is too early to know if it will be an effective treatment. Attempts at enzyme replacement therapy have not been successful to date. Hurler syndrome is also known as mucopolysaccharidosis I.

Medical dictionary. 2011.

Look at other dictionaries:

  • 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 de Hurler-Scheie-Hurler/Scheie — Syndrome de Hurler Syndrome de Hurler Autre nom Mucopolysaccharidose de type 1 Référence MIM …   Wikipédia en Français

  • Syndrome de hurler — Autre nom Mucopolysaccharidose de type 1 Référence MIM …   Wikipédia en Français

  • Hurler — Syndrome de Hurler Syndrome de Hurler Autre nom Mucopolysaccharidose de type 1 Référence MIM …   Wikipédia en Français

  • Syndrome de Hurler — Référence MIM 607014 Transmission Récessive Chromosome 4p16.3 Gène IUAD Empreinte parentale Non …   Wikipédia en Français

  • HURLER (MALADIE DE) — HURLER MALADIE DE Syndrome décrit pour la première fois par Hurler en 1919. Comme l’a montré récemment O’Brien, une accumulation de mucopolysaccharides et de gangliosides dans les cellules des sujets atteints est la cause de cette maladie. Dans… …   Encyclopédie Universelle

  • 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 — means someone who hurls, especially * a player of hurling * a pitcher in baseball * a unit of the Wolf Clan in the game Battle RealmsHurler is also the name of two roller coasters at two amusement parks owned by Cedar Fair. * Kings Dominion near… …   Wikipedia

  • Hurler syndrome — Hurler syndrome. См. мукополисахаридоз I. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

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