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 thickened coarse face, hepatosplenomegaly (enlargement of the liver and spleen) from mucopolysaccharide deposits, cardiovascular disorders from mucopolysaccharide deposits, and deafness. There is no clouding of the cornea. There are two forms of Hunter syndrome. One is a severe form that causes progressive mental retardation, physical disability, and death before age 15 in most cases. The other is a mild form that is compatible with survival to adulthood and reproduction and in which the intellect is impaired minimally, if at all. Both forms of Hunter syndrome are inherited in an X-linked recessive manner. The gene for iduronate sulfatase is on the X chromosome (in band Xq28). Bone marrow transplantation has been done without consistently encouraging results. Iduronate sulfatase is currently being tested in enzyme replacement therapy. Hunter syndrome is also known as mucopolysaccharidosis II.

* * *

Hun·ter syndrome (hunґtər) [Charles H. Hunter, Canadian physician, 1873–1955] see under syndrome.

Medical dictionary. 2011.

Look at other dictionaries:

  • 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

  • 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 (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

  • 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

  • Syndrome d'immunodéficience acquise — « Sida » redirige ici. Pour les autres significations, voir Sida (homonymie). Syndrome d immunodéficience acquise Classification et ressources externes …   Wikipédia en Français

  • Syndrome de Coffin-Lowry — Ne pas confondre ce syndrome avec le syndrome de Coffin Siris Syndrome de Coffin Lowry Référence MIM 303600 Transmission Dominante liée à l X Chromosome Xp22.2 p22.1 Gène RPS6KA3 …   Wikipédia en Français

  • 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

Share the article and excerpts

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