Hunter'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 mental retardation, enlargement of the liver and spleen, and prominent coarse facial features (gargoylism). The disease is sex-linked, being restricted to males, although females can be carriers.
Medical names:
mucopolysaccharidosis type II [H. Hunter (1872–1955), US physician]

The new mediacal dictionary. 2014.

Look at other dictionaries:

  • Hunter's syndrome — or Hunter syndrome hən tər(z) n a mucopolysaccharidosis that is similar to Hurler s syndrome but is inherited as a sex linked recessive trait and has milder symptoms Hunter Charles (1873 1955) Canadian physician. Hunter published his original… …   Medical dictionary

  • Hunter's syndrome — ▪ disease also called  Mucopolysaccharidosis Ii,         rare sex linked hereditary disorder that varies widely in its severity but is generally characterized by some degree of dwarfism, mental retardation, and deafness. The disease affects only… …   Universalium

  • Синдром Гунтера (Hunter'S Syndrome) — наследственное заболевание, возникающее в результате дефицита фермента, приводящего к накоплению белково углеводных комплексов и жиров в клетках. В результате у человека отмечается задержка умственного развития, увеличение печени и селезенки;… …   Медицинские термины

  • Hunter syndrome — Classification and external resources ICD 10 E76.1 ICD 9 277.5 …   Wikipedia

  • Hunter syndrome — Recessive mucopolysaccharidosis, X linked, in which dermatan and heparan sulphates are not degraded. Because two lysosomal enzymes (heparan sulphate sulphatase and a iduronidase) are involved in the breakdown of these glycosaminoglycans,… …   Dictionary of molecular biology

  • Syndrome de coffin-lowry — Ne pas confondre ce syndrome avec le syndrome de Coffin Siris Syndrome de Coffin Lowry Autre nom Aucun Référence MIM …   Wikipédia en Français

  • Syndrome de bannayan-riley-ruvalcaba — Autre nom Syndrome de Riley Smith Référence MIM …   Wikipédia en Français

  • Syndrome de Bannayan-Riley-Ruvalcaba — Référence MIM 153480 Transmission Dominante Chromosome 10q23.31 Gène PTEN Empreinte parentale …   Wikipédia en Français

  • Hunter syndrome — A genetic metabolic disorder that arises from deficiency of the enzyme iduronate sulfatase, resulting in tissue deposits of molecules called mucopolysaccharides. The characteristic features of Hunter syndrome include dwarfism, bone deformities, a …   Medical dictionary

  • Hunter (disambiguation) — A hunter is someone who engages in the act of hunting.Hunter may also refer to:People* Hunter (name), a given name and a family name (including a list of people with that name)PlacesAustralia* Division of Hunter, electoral district in the… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.