hunter syndrome…

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mucopolysaccharidosis type ii, iduronate sulfatase deficiency, hunter syndrome, hereditary disease, the breakdown of a mucopolysaccharide, a chemical that is widely distributed, in the body outside of cells, defective, chemical builds up, a characteristic facial appearance, abnormal function, multiple organs, in severe cases, early death, hunter syndrome is inherited, an x-linked recessive disease, that women carry the disease, pass it on to sons, not themselves afffected, girls have two x chromosomes, normal x, provide a functioning gene, other x is defective, boys have an x, a y, no normal x gene to fix the problem x is defective, metabolic abnormality that causes, hunter syndrome, lack, the enzyme iduronate sulfatase, in its absence, mucopolysaccharides collect in various body tissues, causing damage, children, develop an early-onset type, severe form, shortly after age 2 that causes, a large skull, coarse facial features, profound mental retardation, spasticity, aggressive behavior, joint stiffness, death, age 20, a late-onset type, mild form, less severe symptoms, juvenile form, early-onset, severe form, mental deterioration, severe mental retardation, aggressive behavior, hyperactive, mild form, mild to no mental deficiency, forms, coarse facial features, large head, macrocephaly, stiffening of joints, increased hair, hypertrichosis, deafness, progressive, enlargement of internal organs liver, spleen, abnormal retina, the eye, carpal tunnel syndrome, signs, the disorder that the doctor might look, hepatomegaly, enlargement of liver, splenomegaly, enlargement of spleen, inguinal hernia, spasticity, heart murmur, leaky heart valves, joint contractures, excretion of heparan sulfate, dermatan sulfate in urine, decreased iduronate sulfatase enzyme activity in serum, cells, indicate this disorder is present, urine, heparan sulfate, dermatan sulfate, enzyme study, decreased iduronosulfate sulfatase, studied in serum, wbcs, fibroblasts, genetic testing, mutation, in the iduronate sulfatase gene, no cure, hunter syndrome, a specific treatment is developed, enzyme replacement therapy, experimental, not be able, prevent neurologic disease from getting worse, individual problems, addressed separately, bone marrow transplant has been, the early-onset form, variable results, life expectancy, the early-onset form, severe form, 10-20 years, life expectancy, the late-onset form, mild form, 20-60 years, airway obstruction in late-onset form, mild form, progressive mental deterioration in early-onset, severe form, progressive loss of activities of daily living in early-onset, severe form, progressive hearing loss in both mild, severe forms, progressive joint stiffness contractures of joints in early-onset, severe form, carpal tunnel syndrome, child manifest a group of these symptoms, a genetic carrier, considering having children, genetic counseling, prospective parents, a family history of hunter syndrome, prenatal testing is available, carrier testing, female relatives of affected males is available at a few specialized centers.