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mucopolysaccharidosis II

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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.


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