A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
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The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase.
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Hunter syndrome: prenatal diagnosis in maternal serum.
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Iduronate sulfate sulfatase (ISS), the deficient hydrolase in Hunter syndrome, consistently increases in the serum of pregnant women, reaching a three- to fourfold increase from pre-pregnancy levels toward the end of pregnancy. In Hunter carriers, a correlation occurs between the status of the fetus with regard to Hunter syndrome and the ISS increase in maternal serum. Thus, in pregnancies with Hunter-affected fetuses, enzyme levels did not change in the serum of heterozygous mothers until abortion was performed, while in nonaffected fetuses, ISS increased usually very early in pregnancy--as early as the 6th-12th week. In heterozygote female fetuses, this increase might be delayed. These data imply that a prenatal diagnosis of Hunter syndrome might be accomplished in maternal serum at early conventional procedures for the prenatal diagnosis of Hunter syndrome. (+info)
X-linked Hunter syndrome: the heterozygous phenotype in cell culture.
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Fibroblast cultures derived from the skin of three Hunter heterozygotes have been examined for iduronate sulfatase deficiency primarily by measurement of [35S]-mucopolysaccharide accumulation in the presence and absence of Hunter corrective factor. For each heterozygote, two populations of clones were observed: normal and enzyme deficient, as predicted by the Lyon hypothesis. However, the phenotype of the uncloned cultures was usually normal, presumably because of cross-correction, even after storage in liquid N2. Mixing experiments indicate that the presence of a majority of cells with the Hunter phenotype may be obscured as the result of correction by the minority population of normal cells in the mixture. Variability in the ability to cross-correct was also demonstrated. The unpredictable behavior of uncloned cultures make them unsuitable for diagnosing the Hunter carrier state. (+info)
Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.
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We describe a 3 year old girl with the typical clinical features of the X linked recessive condition, Hunter's disease. The diagnosis was confirmed by the pattern of urinary excretion of glycosaminoglycans and the absence of iduronate sulphatase activity in her fibroblasts. She also had an apparently balanced reciprocal chromosomal translocation 46XX,t(X:5) with the X breakpoint being between q26 and q27. Pedigree analysis, and the normal iduronate sulphatase activity in the mother's fibroblasts, serum, and hair roots indicate that the affected child represents a new mutation. Since the parents' karyotypes are normal, it seems that the translocation disrupted the iduronate sulphatase gene itself, thus mapping this to Xq26-27 for the first time. The severe clinical features, not expected in a girl, may be explained by non-random X inactivation. (+info)