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 ?
This Fast Track designation is further recognition of the critical need to develop new, effective therapy options for patients with Hunter syndrome with cognitive impairment.
Hunter syndrome is a genetic disorder classified as one of the lysosomal storage diseases, specifically mucopolysaccharidosis II.
This is a tremendous milestone for the many Hunter syndrome patients in
For the first few months, a boy with Hunter Syndrome may appear to be like any other.
Jacob - who suffered from the rare condition Hunter syndrome - was found at the address in Henty Close following a 999 call.
Elaine Quinn's nine-year-old son Daniel Muers was diagnosed with MPS Hunter Syndrome when he was three.
Former SAS soldier Wragg denies murdering Jacob, who suffered from the crippling and rare degenerative disease Hunter syndrome, but admits manslaughter on the grounds of diminished responsibility.
Within this focus, the company markets Replagal, an enzyme replacement therapy for Fabry disease, and is developing treatments for Hunter syndrome and Gaucher disease.
What the police must have established within an hour or so was that the couple were loving parents who had watched their 10-year-old son Jacob steadily decline into the hopeless agony of the genetic disorder Hunter Syndrome.
A week later, Cheryl and I received a phone call from the doctors saying that Mitch was diagnosed with Hunter syndrome (severe), MPS II.

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