gaucher disease…

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bone marrow aspiration, gaucher cell, photomicrograph, gaucher cell, photomicrograph #2, hepatosplenomegaly, glucocerebrosidase deficiency, glucosylceramidase deficiency, gaucher disease, inherited deficiency, the enzyme glucosidase, in the buildup of a toxic substance, glucosylceramide, in different parts, spleen, liver, bones, gaucher disease, inherited disorder, an estimated 1 in 50,000 to 1 in 100,000 people, in the general population, individuals of eastern, central european, ashkenazi, jewish heritage, at higher risk, deficiency, the enzyme glucocerebrosidase causes, lysosomes to, become congested, glucosylceramide, congested lysosomes buildup, in the liver, spleen, bones, bone marrow, leads to decreased production of red blood cells, anemia, thinning, the bones, osteopenia, an autosomal recessive disease, that an affected child would inherit two abnormal copies, the enzyme, mother, father, parents, carriers, not have the disease, silently harbor one abnormal copy, the gene, five subtypes of gaucher disease, type 1 disease, common, it is characterized by bone disease, anemia, an enlarged spleen, thrombocytopenia, type i affects both children, adults, most prevalent, in the ashkenazi jewish population, affecting anywhere from 1 out of 500-1,000 births, type 2 disease, begins in infancy, severe neurologic involvement, form, lead to rapid, early death, type 3 disease typically, primary neurologic involvement, runs a slower, favorable course, type 4, marked by dry, rough, scaly skin, severe edema upon birth, deadly, type 5, cardiovascular form characterized by calcification of heart valves, a mildly enlarged spleen, eye problems, symptoms vary depending on the type of disease, enlarged spleen, splenomegaly, enlarged liver, heptomegaly, lung disease, skin changes, cognitive impairment, bone pain, fractures, easy bruising, fatigue, seizures, severe edema at birth, heart valve problems, following tests performed, blood cell examination, decreased enzyme activity, white blood cell cultures, beta-glucosidase, bone marrow aspiration, biopsy, the spleen, mri, ct, x-ray, the skeleton, genetic testing, performed by obtaining bone marrow, blood, genetic testing, confirm blood tests, carrier status, to make a prenatal diagnosis, prognosis, enzyme replacement therapy is available, a bone marrow transplant required in severe cases, more information contact, national gaucher foundation, gaucherdisease, chicago center, jewish genetic disorders, jewishgeneticscenter, gauchers association, gaucher, org, uk, prognosis depends on the subtype, infantile form of gaucher disease, lead to early death, most affected children die, the age of 5 years, the availability of synthetic enzyme, most patients, the adult-chronic form, look forward to normal, near-normal life expectancy, seizures, anemia, thrombocytopenia, bone infarctions, a comprehensive gaucher center, family history of gaucher disease, genetic counseling is recommended, prospective parents, a family history of gaucher disease, testing, parents carry the gene that could pass on the gaucher disease, a prenatal test, tell fetus has gaucher syndrome.