Organelle Function Diseases

Diseases related to Organelle Functions

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Fabry Disease

1. Fabry disease is a rare inherited disorder that prevent the body from producing enough alpha-galactosidase A enzyme. What does alpha-galactosidase A enzyme do?

Alpha Galactosidase is known as a glycoprotein. It hydrolyzes molecules from glycolipids and glycoproteins found in complex sugars

Why would it be a problem for the body to not produce enough of it?

Fabry disease causes abnormal deposits of fatty substances to accumulate in blood vessel walls, due to the inherited lack of alpha galactosidase. This can later lead to kidney malfunction and an increased risk of heart disease.

2. In what organelle does the alpha-GAL enzyme typically function?

The lysosome

What is the overall job of that organelle?

Lysosomes are organelles that contain digestive enzymes. They digest excess or worn out organelles, food particles, and engulfed viruses or bacteria.

3. What are typical symptoms of Fabry disease?

Pain and burning in your hands and feet that get worse with exercise, fever, and hot weather or when you are tired, small, dark red spots usually found between your belly button and knees, cloudy vision, hearing loss, ringing in the ears, sweating less than normal, stomach pain, bowel movements right after eating.

4. How does the build up of globotriaosylceramide (which alpha-GAL should break down) cause these symptoms?

In Fabry disease, globotriaosylceramide (GL-3) builds up in a person’s cells and tissues throughout the body. When this happens body systems and organs such as the heart, kidneys and central nervous system may be unable to work properly.

5. Fabry disease is a genetic disease meaning it is inherited by children from their parents. Women with Fabry disease have a 50% chance of passing the mutant gene to their children. Men pass the gene...