Hunter's syndrome

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 males and makes its first appearance during the first three years of life. Many patients die before age 20. Speech and mental development are delayed, the child has frequent respiratory infections, and as the disease progresses a typical constellation of physical signs becomes evident: protuberant abdomen, claw hands, excessive hair growth, coarsening of the face, and retarded growth. The disorder is caused by a deficiency in the enzyme iduronate sulfatase. This deficiency results in a defective chemical breakdown of the mucopolysaccharides, carbohydrates essential in the development of the connective tissues, and a consequent accumulation of mucopolysaccharides in the body, which in turn causes the disease's characteristic mental and physical defects.

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Universalium. 2010.

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 — 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… …   The new mediacal dictionary

  • 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

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  • 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

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