mucopolysaccharidosis II


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Related to mucopolysaccharidosis II: Mucopolysaccharidosis iii, Hunter disease

mucopolysaccharidosis II

An X-linked recessive mucopolysaccharidosis caused by a defect in IDS on chromosome Xq28, which encodes iduronate-2 sulfatase, which is responsible for lysosomal degradation of heparan sulfate and dermatan sulfate.
 
Clinical findings
Early-onset form, type A appears by age 2—large skull, coarse facies, profound mental retardation, spasticity, joint stiffness, aggressive behaviour; late-onset type B results in much milder symptoms.

mucopolysaccharidosis II

Hunter syndrome, iduronate 2-sulfatase deficiency Metabolic disorders An X-R–♀ carriers, ♂ with disease mucopolysaccharidosis due to a defect in iduronosulfate sulfatase, resulting in tissue accumulation of chondroitin sulfate B and heparan sulfate Clinical Early onset form, type A appears by age 2–large skull, coarse facies, profound mental retardation, spasticity, joint stiffness, aggressive behavior; late onset type B causes much milder Sx. See Mucopolysaccharidosis.

mucopolysaccharidosis II

Mucopolysaccharidosis due to a deficiency of the enzyme l-iduronosulfate sulfatase. Clinically, there are retinal degeneration without corneal clouding, mental retardation, joint stiffness, skeletal dysplasia, cardiac lesions, and deafness. Synonym: Hunter's disease
References in periodicals archive ?
* The report reviews pipeline therapeutics for Mucopolysaccharidosis II (MPS II) (Hunter Syndrome ) by companies and universities/research institutes based on information derived from company and industry-specific sources
* The report reviews key players involved Mucopolysaccharidosis II (MPS II) (Hunter Syndrome ) therapeutics and enlists all their major and minor projects
* The report reviews key players involved in the therapeutics development for Mucopolysaccharidosis II (MPS II) (Hunter Syndrome) and enlists all their major and minor projects
* A review of the Mucopolysaccharidosis II (MPS II) (Hunter Syndrome) products under development by companies and universities/research institutes based on information derived from company and industry-specific sources
This report provides comprehensive information on the therapeutic development for Mucopolysaccharidosis II (MPS II) (Hunter Syndrome ), complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases.
[3] Nonstandard abbreviations: MPS II, mucopolysaccharidosis II; LSD, lysosomal storage disorder; IDS, iduronate-2-sulfatase; 4MU sulfate, 4-methylumbelliferyl sulfate; DELFIA, dissociation-enhanced lanthanide fluorescence immune-assay; and BSA, bovine serum albumin.
Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study.

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