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Gaucher’s Disease

Gaucher’s Disease. Gaucher’s disease is a neurological disorder that affects many of the body’s tissues and organs. Symptoms. Type One Symptoms Type one is the most common form of Gaucher’s disease Hepatosplenomegaly (spleen and liver enlargement)

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Gaucher’s Disease

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  1. Gaucher’s Disease Gaucher’s disease is a neurological disorder that affects many of the body’s tissues and organs

  2. Symptoms • Type One Symptoms • Type one is the most common form of Gaucher’s disease • Hepatosplenomegaly (spleen and liver enlargement) • Anemia and easy bruising due to a decrease in blood platelets (thrombocytopenia) • Lung disease • Bone abnormalities

  3. Symptoms cont’d • Type Two and Three Symptoms • In addition to all of the previous symptoms, one can also suffer from seizures, rapid random eye movements and brain damage

  4. Genetic Cause • Gaucher’s disease is caused by a mutation in the GBA gene • The GBA gene pro vides instrutions for making the enzyme, beta-glucereborosidase • Beta-glucerebrosidase breaks down glucereborside into glucose and cereamide • When the enzyme isn’t present the fatty molecule greatly affects the body’s organs and tissues and creates the characteristics of Gaucher’s Disease

  5. Genetic Cause cont’d • This condition is inherited in an autosomal recessive pattern, meaning that both genes in the cell have the mutation • The parents of the offspring are generally carriers, showing no signs of the condition, but both donate the recessive giving the disease to their offspring

  6. Treatment • The newest and most common treatment is enzyme replacement, in which GC (glucerebrosidase) is injected intravenously • Sadly this treatment can run anywhere from 100,000 to 400,000 a year, preventing many from getting treatment • This enzyme replacement is effective for most symptoms but the most notable exception is the brain damage found in Type II and III. • There are still some questions about a treatment of Type III

  7. Tests/Screenings for the Disease • The best way to determine of one has Gaucher’s is to look for the symptoms previously mentioned • These can be found using many molecular, enzymatic, and microscopic tests • Enzymatic tests will show deficencies in the enzyme GC (the levels will be below 30%) • Biopsy’s are best for microscopic tests • When using a biopsy test the cells will appear swollen and will contain characteristic features of the cytoplasm and nucleas

  8. Percentage of Population

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