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 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
Mucopolysaccharidosis II (MPS II, (3) Hunter syndrome) is an X-linked, recessively inherited, lysosomal storage disorder (LSD) (1).
Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study.

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