Question

1. Choose between one of the following three diseases – Tay-Sachs, Gaucher, or Fabry. Describe: a....

1. Choose between one of the following three diseases – Tay-Sachs, Gaucher, or Fabry. Describe:

a. What causes the disease?

b. What are the symptoms and clinical indications of the disease?

c. How is the disease treated?

d. How are these diseases related to each other?

Science   Anatomy-And-Physiology   
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Homework Answers

Answer #1

Gaucher Disease

​​​​​​It is a type of genetic disorder in which sphingolipid like glucocerebroside accumulates in cells and other organs.

a.Cause- it is caused due to hereditary deficiency of enzyme glucocerebrosidase.This leads to accumulation of glucocerebroside In cells especially white blood cells.

b.symptoms and clinical indications:

  • spleen and liver enlargement
  • Anemia
  • Fatigue
  • Low platelet count
  • Bleeding disorders

c. treatment

Earlier enzyme replacement treatment was given by intravenous recombinant glucocerebrosidase.

Nowadays DNA recombinant technology is used.

Examples are;

  • Imiglucerase
  • Velaglucerase

d. All three diseases are related in the sense that all are lipid storage disorders and are inherited disorders.

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