1. To be able to understand Gauchers Disease.
2. To be able to know the cause of Gaucher’s Disease.
3. To able to know the different sign and symptoms of Gaucher’s Disease.
Gauchers Disease - is inherited metabolic disorders in with harmful quantities of a fatty substance culled glucocerebroside accumulate in the spleen, liver, lungs bone marrow and sometimes in the brain.
Gauehers Disease was an inherited disease and that both parents must pass on the gene for the disease. It involves also the Sphingolipidoses a lysosomal hydrolytic enzyme is difficult in each disorder. The enzyme is difficult in each disorder. The enzyme deficiencies cause death usually soon after the first month of life with the exception of the adult form of Gauehers disease and of Fabrys disease. The sphinyotipidoses are autosomal recessive disease.
What is Gauchers Disease?
Gauchers disease is an inherited metabolic disorder in which harmful quantities of a fatly substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. There are three types of Gaudier disease. The first category, called type 1, is far by the most common patient in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, .skeletal disorders, and, in some instance, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. Type 2 Gaucher disease, liver and spleen enlargement ;ire apparent by 3 months of age. Patient have extensive and progressive brain damage and usually die by 2 years or age. In the third category, called type 3, liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. All Gauchcr patients exhibit a deficiency of an enzyme called glococerebrosidase that is involved in the breakdown and... [continues]
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