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 ?
If approved, this would be the first human enzyme replacement therapy for the treatment of Hunter syndrome, also known as Mucopolysaccharidosis II (MPS II).
If approved, ELAPRASE would be the first human enzyme replacement therapy for the treatment of Hunter syndrome, also known as Mucopolysaccharidosis II (MPS II).
BASINGSTOKE, England and PHILADELPHIA, Pennsylvania, July 24 /PRNewswire-FirstCall/ -- Shire plc today announced that the FDA has granted marketing approval for ELAPRASE, a human enzyme replacement therapy for the treatment of Hunter syndrome, also known as Mucopolysaccharidosis II (MPS II).
The protein is useful in the treatment and diagnosis of Hunter syndrome, also known as mucopolysaccharidosis II (MPS II).

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