Hunter syndrome


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Hun·ter syn·drome

(hŭn'tĕr), [MIM*309900]
an error of mucopolysaccharide metabolism characterized by deficiency of iduronate sulfatase, with excretion of dermatan sulfate and heparan sulfate in the urine; clinically similar to Hurler syndrome but distinguished by less severe skeletal changes, no corneal clouding, and X-linked recessive inheritance; caused by mutation in the iduronate sulfatase gene (IDS) on chromosome Xq.

Hunter syndrome

(hŭn′tər)
n.
A type of mucopolysaccharidosis (MPS II) that occurs almost exclusively in males, characterized by the presence of dermatan sulfate and heparan sulfate in the urine, skin lesions, airway obstruction, enlargement of the liver and spleen, short stature due to skeletal abnormalities, hearing loss, and, in some forms, intellectual disability.
An X-linked recessive lysosomal storage disease type of inborn error of metabolism [MIM 309900] due to a deficit of iduronate-2-sulfatase, resulting in an accumulation of glycosaminoglycans
Management Nothing has proven effective

Hunter syndrome

Mucopolysaccharidosis type II Molecular medicine An X-R inborn error of metabolism caused by a deficit of sulfoiduronate or iduronosulfate sulfatase Clinical Type A–early onset is associated with a large skull, coarse facial features, profound mental retardation, spasticity, stiffness, aggressive behavior; type B is milder

Hunt·er syn·drome

(hŭn'tĕr sin'drōm)
An error of mucopolysaccharide metabolism characterized by deficiency of iduronate sulfatase, with excretion of dermatan sulfate and heparan sulfate in the urine; clinically similar to Hurler syndrome but distinguished by less severe skeletal changes, an absence of corneal clouding, and X-linked recessive inheritance; caused by mutation in the iduronate sulfatase gene (IDS) on chromosome Xq.

Hunter,

Charles H., Canadian physician, 1872-1955.
Hunter syndrome - an error of mucopolysaccharide metabolism. Synonym(s): type II mucopolysaccharidosis
References in periodicals archive ?
13, 2017 file photo, Brian Madeux, starts to receive the first human gene editing therapy for Hunter syndrome, as his girlfriend Marcie Humphrey, left, applauds at the UCSF Benioff Children's Hospital in Oakland, Calif.
gov/condition/mucopolysaccharidosis-type-ii) National Library of Medicine , Hunter syndrome is a progressive disorder that is linked to the absence of a certain enzyme, because a genetic mutation prevents the body from producing it.
The three suffer from Hunter syndrome, a rare and serious genetic disorder that strikes when an enzyme the body needs is missing or is not working properly.
Arian Chowdhury has been suffering from Hunter Syndrome, a serious genetic disorder, for the past eight years.
My friend Karen Johnson set up Gem in memory of her two boys, Simon and Mikey, who both died aged 12 from the genetic condition Hunter Syndrome.
Karen's daughter Katie, pictured with me above, then developed leukaemia and is a carrier of Hunter Syndrome.
At the age of six, Chris was diagnosed with MPS II Hunter syndrome and told that he would not live past age 18.
A 10-year-old boy with a known history of Hunter syndrome and a history of spastic quadriplegia presented with worsening paresthesias and dysesthesias in both hands.
The drug, made by Shire Pharmaceuticals, treats Hunter syndrome, an extremely rare metabolic disorder.
Elaine Quinn, 31, from Heaton, has been bringing her 12-year-old son Dan - who suffers from enzyme deficiency condition Hunter Syndrome - for specialist short breaks at St Oswald's Children's Service for five years.
But a couple of years later their first son Jacob was diagnosed with the rare genetic Hunter Syndrome in which sufferers become deaf, dumb and incontinent and eventually die in their teens.
Harry, who lives in Newton, Chester, and goes to Mickle Trafford Primary School, suffers from the very rare condition Hunter Syndrome, which means he may not live beyond his teens.

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