Gaucher’s Disease

1
Gauchers Disease

• Gauchers disease is a neurological disorder that
  affects many of the bodys tissues and organs

2
Symptoms

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

3
Symptoms contd

• 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

• Gauchers 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 isnt present the fatty molecule
  greatly affects the bodys organs and tissues and
  creates the characteristics of Gauchers Disease

5
Genetic Cause contd

• 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 Gauchers 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)
• Biopsys 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