sanfilippo syndrome…

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sanfilippo syndrome is one, the hereditary mucopolysaccharide storage diseases, characterized by the absence of one of several enzymes, enzymes help rid the body of a substance found outside of our cells, a mucopolysaccharide, in sanfilippo syndrome, large amounts of a mucopolysaccharide, heparan sulfate are excreted, in the urine, sanfilippo syndrome is transmitted, an autosomal recessive trait, possibly the most common, the mucopolysaccharide storage diseases, in sanfilippo syndrome, onset is relatively late, first year of life, the mucopolysaccharide storage diseases, individuals have coarse facial features, decreased mental development that progresses to severe mental retardation, stiff joints, gait disturbances, speech disturbances, behavioral problems, unlike hurler syndrome, sanfilippo syndrome, cornea is clear, unrelenting, survival times, longer, 20s, family history of sanfilippo syndrome, have normal growth, first few years, final height is below average, delayed development followed by deteriorating mental status, deterioration of gait, coarse facial features, full lips, heavy eyebrows that meet, in the middle, the face, above the nose, diarrhea, stiff joints, not extend fully, , hepatomegaly, liver enlargement, spleen enlargement, clear corneas, echocardiogram, thickened heart, abnormal bone x-rays, thickened skull, oval vertebrae, seizures, mental retardation, activities of one, the enzymes, in "alternative names", low in fibroblast skin cells, urine, have increased heparan sulfate, abnormal, pathological staining character of white blood cells, metachromasia, , no specific treatment available, sanfilippo syndrome, experiments in animal models suggest that enzyme replacement used, in the future, additional information, national mps society severe retardation, most important, the clinical problems, iqs below 50, severe cases lead to death, 20 years of age, minority of cases, sanfilippo is compatible, a normal lifespan, develop retinal degeneration blindness, have seizures , blindness, seizures, mental retardation, progressive neurologic disease becoming wheelchair bound, inability to care, self, call health care provider, child, growing, developing, plan to have children, family history of sanfilippo syndrome, , genetic counseling, prospective parents, a family history of sanfilippo syndrome.